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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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82 hot topic(s) found with the query "Hearing loss"

Rethinking non-syndromic hearing loss and its mimics in the genomic era
B Vona, EJHG, March 6, 2024 (Posted: Mar 06, 2024 9AM)

From the article: "The sense of hearing plays a crucial role in everyday life, from influencing speech and language development in early childhood to reducing risk of social isolation, depression and cognitive decline in the elderly. The causes of hearing loss are numerous, although genetic causes are thought to be implicated in up to 80% of congenital diagnoses (reviewed in ref. [1]). The remarkable complexity of the auditory system is mirrored in its extensive genetic heterogeneity, with deleterious variants in hundreds of genes already associated with hearing loss and many more awaiting discovery. "

Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study
A Paul et al, IJNS, February 2024 (Posted: Feb 05, 2024 11AM)

From the abstract: "We studied infants referred for diagnosis after screening between January 2018 and December 2021. Their medical history and neonatal hearing risk factors were assessed. Associations between factors were also analyzed. Sixty-six infants were included. A family history of deafness (47%), syndromic deafness (41%), intrauterine growth retardation or prematurity (19.7%), and prolonged NICU admission (18%) were the most observed factors. When analyzing according to these associations, family history of deafness and syndromic cases remained the most prevalent factors (74%), while only five cases (7.8%) presented with other neonatal risk factors only. The majority of congenital hearing loss cases are observed in infants with suspected genetic deafness. "

Deaf boy can now hear after breakthrough gene treatment
Medical XPress, January 23, 2024 (Posted: Jan 25, 2024 8AM)

From the article: " Gene therapy for hearing loss is something that we physicians and scientists in the world of hearing loss have been working toward for over 20 years, and it is finally here. While the gene therapy we performed in our patient was to correct an abnormality in one, very rare gene, these studies may open the door for future use for some of the over 150 other genes that cause childhood hearing loss."

Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
C Kraan et al, Genetics in Med Open, August 26, 2023 (Posted: Aug 29, 2023 11AM)

From the abstract: "Clear understanding of mental health phenotypes and associated socioeconomic, physical health and wellbeing impacts in adult women with an FMR1 premutation (PM) is needed for counselling and primary healthcare. This is a survey of 137 participants. Depression was found in ~30% and social anxiety in ~38%. With depression status the outcome variable, strongest associations were for low education, diagnosis of migraine, diagnosis of irritable bowel syndrome (IBS) and self-reported hearing loss symptoms."

A Parent’s Guide to Genetics and Hearing Loss
CDC, 2023 Brand (Posted: Mar 31, 2023 7AM)

About 1 in 500 infants are born with or develop hearing loss during early childhood. Screening for hearing loss is considered standard care in the United States and in 2019 over 98% of children were screened, usually before leaving the hospital. Hearing loss has many causes, including genetic causes (that is, caused by the instructions in the baby’s cells) and non-genetic causes (such as certain infections the mother has during pregnancy or infections affecting the newborn baby).

Implementation of Population-Based Genetic Testing of Newborn Infants for Prediction of Hearing Loss in Ontario, Canada
CDC Webinar, April 19, 2023 Brand (Posted: Feb 22, 2023 6AM)

In 2019, Newborn Screening Ontario launched a novel screening approach for genetic permanent hearing loss (PHL) risk involving universal testing of newborn dried blood spots for a panel of penetrant GJB2 and SLC26A4 variants associated with congenital or very early onset PHL. In July 2020, the less penetrant and relatively frequent GJB2 V37I variant was added to the panel. Babies homozygous for this variant, or heterozygous for this variant and a penetrant variant, are estimated to be at ~20% risk for congenital hearing loss and ~50% risk of developing moderate or more severe PHL by age 5.

Rare-variant association analysis reveals known and new age-related hearing loss genes
DMC Sanchez et al, EJHG, February 15, 2023 (Posted: Feb 15, 2023 7AM)

We analyzed exome and imputed data from white-European UK Biobank volunteers, performing both single-variant and rare-variant aggregate association analyses using self-reported ARHL phenotypes. We identified and replicated associations between ARHL and rare-variants in KLHDC7B, PDCD6, MYO6, SYNJ2, and TECTA. PUS7L and EYA4 also revealed rare-variant associations with ARHL. EYA4, MYO6, and TECTA are all known to underline Mendelian nonsyndromic HL. PDCD6, a new HL gene, plays an important role in apoptosis and has widespread inner ear expression, particularly in the inner hair cells.

Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening
L Freeman et al, EJHG, February 9, 2023 (Posted: Feb 09, 2023 6AM)

Association of Polygenic Risk Scores for Hearing Difficulty in Older Adults With Hearing Loss in Mid-Childhood and Midlife: A Population-Based Cross-sectional Study Within the Longitudinal Study of Australian Children.
Jing Wang et al. JAMA otolaryngology-- head & neck surgery 2023 1 (Posted: Jan 28, 2023 11AM)

This population-based cross-sectional study, including 1608 children and 1642 adults, nested within the Longitudinal Study of Australian Children found that in contemporaneous population-based samples, PRSs computed from self-reported hearing difficulty in 40- to 69-year-old adults showed some evidence of association with hearing ability in 11- to 12-year-olds and their parents, but minimal evidence of associations with speech reception ability.

Association of Genetic Diagnoses of Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson Ryan J et al. JAMA otolaryngology-- head & neck surgery 2023 1 (Posted: Jan 18, 2023 1PM)

n this cross-sectional study of 449 children with SNHL, genomic sequencing identified a genetic cause of SNHL for more than 50% of affected children, with 43 genes involved. Cochlear implants were successful in all participants who underwent implant, but children with hearing loss due to deafness-causing alleles of TMPRSS3 and MITF had the best results on speech performance tests. The results suggest that genetic testing is a valuable prognostic tool for managing pediatric hearing loss and a predictor for cochlear implant outcomes.

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss
T Markova et al, J Per Med, November 4, 2022 (Posted: Nov 04, 2022 9AM)

We aimed to evaluate the audiological features in patients with mild, moderate, and moderate-to-severe SNHL according to genotype. Audiological and genetic data were analyzed for 251 patients and their relatives with congenital bilateral mild, moderate, and moderate-to-severe SNHL. Hearing loss severity, audiogram profile, interaural symmetry, and dynamics of hearing thresholds were analyzed. In this case, 165 patients had GJB2 gene mutations, 30 patients were identified with STRC mutations, and 16 patients had pathogenic or likely pathogenic USH2A mutations. The presence of at least one GJB2 non-truncating variant in genotype led to less severe hearing impairment.

De novo variants are a common cause of genetic hearing loss.
Klimara Miles J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 10 (Posted: Oct 07, 2022 7AM)

Comprehensive Genomic Sequencing–Based Screening for Hearing Loss in the Neonatal Intensive Care Setting—Is It Time?
AN Abou Tayoun, JAMA Network Open, July 11, 2022 (Posted: Jul 11, 2022 1PM)

A recent study suggests that targeted genetic screening—using population-specific common pathogenic variants—combined with physiological and cytomegalovirus testing may be an effective newborn screening strategy for hearing loss, in critically ill neonates and beyond. This combinatory approach has the additional benefit of identifying mild and later-onset hearing loss and providing valuable genetic information that is often missed by traditional NHBS. However, additional work is needed to characterize the genetic landscape of hearing loss across populations and to define the optimal population-wide genetic screening method for deafness.

Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit
Y Zhu et al, JAMA Network Open, July 11, 2022 (Posted: Jul 11, 2022 1PM)

Is expanded genomic sequencing combined with hearing screening associated with the detection of hearing loss and the improvement in the clinical management of patients in the neonatal intensive care unit (NICU)? Findings In this cohort study that included 8078 patients in the NICU, expanded genomic sequencing was associated with a 15.6% increase in cases of diagnosed hearing loss that were missed by hearing screening and changed the clinical management strategies of these patients. Of 52 patients with a diagnosis of hearing loss, 39 (75%) had genetic findings and experienced a more severe degree of hearing loss.

The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review
L Freeman et al, Genetics in Medicine, June 3, 2022 (Posted: Jun 06, 2022 7AM)

Most studies indicated interest in the use of prenatal diagnosis for deafness. However, there were mixed views, and sometimes strongly held views, expressed regarding the reproductive options that should be available to those with an increased chance of having a child with deafness. Studies were small, from a limited number of countries, and most were too old to include views regarding preimplantation genetic testing.

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
MM Li et al, Genetics in Medicine, May 10, 2022 (Posted: May 11, 2022 8AM)

Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. This clinical practice resource offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical and genetic evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.

Genetic Testing in Newborns Moves From Rare to Routine Application.
Pillers De-Ann M et al. JAMA pediatrics 2022 3 (Posted: Mar 22, 2022 0PM)

The development of the point-of-care test has only moved the goal post. The goal should not be limited to screening for the risk of developing hearing loss, but must be broadened to the identification of novel therapeutics to reduce harm. Importantly, diagnostic testing to identify more specifically those with neonatal sepsis is an important mandate. By having a targeted approach with reliable efficacy in sorting out who truly needs antibiotics, we will approach a safer world with fewer complications for newborns.

Deafness-family matters.
Roux Anne-Françoise et al. European journal of human genetics : EJHG 2021 11 (Posted: Nov 26, 2021 10AM)

Knowledge on the genetics of hearing loss has spectacularly progressed over the last 30 years, as over 120 genes are today causally implicated in Non-Syndromic Hearing Loss (NSHL). This genetic heterogeneity is further increased by over 400 forms of syndromic sensorineural HL [1]. Knowing the genetic etiology of HL provides benefits for the patient regarding the disease course, as well as monitoring for other potential clinical features. It also helps to estimate the recurrence risk of the condition within a given family. Genetic testing is now included in the global monitoring of hearing loss.

Newborn Hearing Screening Can Improve Reading Skills
CDC, October 2021 Brand (Posted: Oct 25, 2021 1PM)

Findings showed that reading proficiency significantly improved for each group of children (by birth year and grade overall) following implementation of UNHS/EHDI. This study is the first to demonstrate long-term improvement in reading proficiency over time among children with hearing loss, as UNHS/EHDI programs were being implemented. By the end of the study, more than 80% of children in Colorado met the national EHDI 1-3-6 benchmarks.

Annual Data: Early Hearing Detection and Intervention (EHDI) Program
CDC, July 2021 Brand (Posted: Jul 13, 2021 7AM)

Is it time to report carrier state for recessive disorders in every microarray analysis?—A pilot model based on hearing loss genes deletions
I Maya et al, EJHG, March 22, 2021 (Posted: Mar 23, 2021 8AM)

A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.
Yang Haiyan et al. BMC medical genomics 2021 3 (1) 61 (Posted: Mar 01, 2021 8AM)

Congenital hearing loss is one of the most common birth defects. Early identification plays a crucial role in improving patients’ communication and language acquisition. Previous studies demonstrated that genetic screening complements newborn hearing screening in clinical settings. We developed a multiplex PCR amplicon sequencing assay to sequence the coding region of the GJB2 gene, the most pathogenic variants of the SLC26A4 gene, and hotspot variants in the MT-RNR1 gene.

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Wang Jing et al. Scientific reports 2021 Feb 11(1) 4036 (Posted: Feb 23, 2021 8AM)

This study investigates the molecular etiology of a hearing loss cohort using a stepwise strategy to effectively diagnose patients and address the challenges posed by the genetic heterogeneity and variable mutation spectrum of hearing loss. In order to target known pathogenic variants, multiplex PCR plus next-generation sequencing was applied in the first step; patients which did not receive a diagnosis from this were further referred for exome sequencing.

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman Tamara S et al. American journal of human genetics 2020 Aug (Posted: Aug 28, 2020 8AM)

We enrolled healthy newborns and children with metabolic diseases or hearing loss (106 participants total). ES confirmed the participant’s underlying diagnosis in 88% of children with metabolic disorders and in 5 out of 28 (~18%) children with hearing loss. We discovered actionable findings in four participants that would not have been detected by standard NBS.

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach
BJ Kim et al, Genetics in Medicine, March 17, 2020 (Posted: Mar 20, 2020 8AM)

Approximately two-thirds of sporadic pediatric mild-to-moderate SNHL have a clear Mendelian genetic etiology, and one-third is associated with CNVs involving STRC. Based on this, we propose a new guideline for molecular diagnosis of these children.

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Downie Lilian et al. European journal of human genetics : EJHG 2019 Dec (Posted: Dec 13, 2019 9AM)

This is population-derived cohort comprised infants with moderate-profound bilateral HI born in the 2016–2017 calendar years, detected through newborn hearing screening. The high diagnostic yield and clinical implications emphasises the need for genomic sequencing to become standard of care.

Fulfilling the Promise - Ensuring the Success of Newborn Screening throughout Life
CDC, November 2019 Brand (Posted: Nov 13, 2019 8AM)

Each year, more than 13,000 newborn babies are identified with conditions such as cystic fibrosis, sickle cell disease, congenital heart defects, and hearing loss through a public health program called newborn screening. Without specialized care and treatment, these babies would face long-term disability, or even death.

Genetic therapies for hearing loss: Accomplishments and remaining challenges.
Taiber Shahar et al. Neuroscience letters 2019 Oct 134527 (Posted: Oct 07, 2019 11AM)

A promising approach for developing treatments for genetic hearing loss is the most simplistic one, that of gene therapy. Gene therapy would intuitively be ideal for these conditions since it is directed at the very source of the problem. Recent achievements in this field in laboratory models spike hope and optimism among scientists, patients, and industry.

GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank
HRR Wells et al, AJHG, September 26, 2019 (Posted: Sep 28, 2019 8AM)

Genome-wide association studies (GWASs) for two self-reported hearing phenotypes, using more than 250,000 UK Biobank (UKBB) volunteers aged between 40 and 69 years. Forty-four independent genome-wide significant loci were identified, considerably increasing the number of established trait loci.

Genetic testing for congenital non-syndromic sensorineural hearing loss.
Raymond Mallory et al. International journal of pediatric otorhinolaryngology 2019 May 12468-75 (Posted: Jun 12, 2019 7AM)

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
Y Sun et al, BMC Medical Genomics, May 2019 (Posted: May 29, 2019 8AM)

Listen Up! Loud Noises Damage Hearing.
CDC, May 2019 Brand (Posted: May 28, 2019 9AM)

New molecular therapies for the treatment of hearing loss.
Ma Yutian et al. Pharmacology & therapeutics 2019 May (Posted: May 28, 2019 8AM)

Systematic Review of Hearing Loss Genes in the African American Population.
Worden Cameron P et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 Jun (5) e488-e496 (Posted: May 28, 2019 8AM)

Hereditary hearing loss; about the known and the unknown.
Kremer Hannie et al. Hearing research 2019 May 58-68 (Posted: May 08, 2019 9AM)

Systematic Review of Hearing Loss Genes in the African American Population.
Worden Cameron P et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 Apr (Posted: May 08, 2019 9AM)

Can your baby hear you say “I love you?”
CDC, May 2019 Brand (Posted: May 08, 2019 9AM)

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano Marina T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Mar (Posted: Mar 27, 2019 8AM)

Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China.
Wang Qiuju et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Mar (Posted: Mar 21, 2019 8AM)

Hearing Loss in Adults.
Cunningham Lisa L et al. The New England journal of medicine 2017 Dec (25) 2465-2473 (Posted: Feb 26, 2018 11AM)

Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
Mittal Rahul et al. Gene 2018 Mar 297-305 (Posted: Feb 26, 2018 11AM)

Information About Early Hearing Detection and Intervention (EHDI) State Programs
Brand (Posted: Sep 01, 2017 0PM)

Outcome of Cochlear Implantation in Prelingually Deafened Children According to Molecular Genetic Etiology.
Park Joo Hyun et al. Ear and hearing 38(5) e316-e324 (Posted: Aug 30, 2017 9AM)

Congenital hearing loss.
Korver Anna M H et al. Nature reviews. Disease primers 2017 01 16094 (Posted: Aug 28, 2017 0PM)

Predictive Value of GJB2 Mutation Status for Hearing Outcomes of Pediatric Cochlear Implantation.
Abdurehim Yasin et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2017 Jul (1) 16-24 (Posted: Aug 28, 2017 0PM)

Molecular diagnostics for hereditary hearing loss in children.
Sommen Manou et al. Expert review of molecular diagnostics 2017 Aug (8) 751-760 (Posted: Aug 28, 2017 0PM)

CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
MMWR Weekly / August 25, 2017 / 66(33);888?890 Brand (Posted: Aug 24, 2017 1PM)

It’s Loud Out There: Hearing Health across the Lifespan
CDC Public Health Grand Rounds, June 20, 2017 Brand (Posted: Jun 13, 2017 1PM)

Advances in genetic hearing loss: CIB2 gene.
Jacoszek Agnieszka et al. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2016 Oct (Posted: Feb 07, 2017 4PM)

Navigating genetic diagnostics in patients with hearing loss.
Sloan-Heggen Christina M et al. Current opinion in pediatrics 2016 Dec (6) 705-712 (Posted: Feb 07, 2017 4PM)

Too Loud! For Too Long! Loud noises damage hearing
CDC Vital Signs, February 2017 Brand (Posted: Feb 07, 2017 4PM)

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
CDC Public Health Grand Rounds, Septemeber 20, 2016 Brand (Posted: Sep 13, 2016 3PM)

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.
Mehta Devanshi et al. American journal of medical genetics. Part A 2016 Aug (Posted: Aug 10, 2016 9AM)

Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.
Carey John C et al. Indian journal of pediatrics 2016 Jan (Posted: Jan 13, 2016 2PM)

Protect Your Hearing, Promote Hearing Health
Brand (Posted: Oct 19, 2015 6AM)

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
Guney Bademci et al. Genetics in Medicine, July 30, 2015 (Posted: Jul 31, 2015 7AM)

Gene therapy for deafness: How close are we?
T Moser. Science Translational Medicine, July 8, 2015 (Posted: Jul 09, 2015 8AM)

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.
Shearer A Eliot et al. Otolaryngol Head Neck Surg 2015 Jun 17. (Posted: Jun 29, 2015 9AM)

GeneReviews(®)
Seattle (WA):University of Washington, Seattle 1993 (Posted: May 01, 2015 11AM)

Genetic investigations in childhood deafness.
Parker Michael et al. Arch. Dis. Child. 2015 Mar (3) 271-278 (Posted: May 01, 2015 9AM)

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.
Vona Barbara et al. Mol. Cell. Probes 2015 Apr 3. (Posted: May 01, 2015 9AM)

Neonatal hearing screening: What we have achieved and what needs to be improved.
Nikolopoulos Thomas P et al. Int. J. Pediatr. Otorhinolaryngol. 2015 May (5) 635-7 (Posted: May 01, 2015 9AM)

Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness.
Nishio Shin-Ya et al. Ann. Otol. Rhinol. Laryngol. 2015 Mar 26. (Posted: May 01, 2015 9AM)

Whole-exome sequencing and its impact in hereditary hearing loss.
Atik Tahir et al. Genet Res (Camb) 2015 e4 (Posted: May 01, 2015 9AM)

The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.
Zhu Yi-Ming et al. Acta Otolaryngol. 2015 Apr 20. 1-5 (Posted: May 01, 2015 9AM)

Genome-wide association study identifies nox3 as a critical gene for susceptibility to noise-induced hearing loss.
Lavinsky Joel et al. PLoS Genet. 2015 Apr (4) e1005094 (Posted: May 01, 2015 9AM)

Genetic variations in protocadherin 15 and their interactions with noise exposure associated with noise-induced hearing loss in Chinese population.
Zhang Xuhui et al. Environ. Res. 2014 Nov 247-52 (Posted: Mar 15, 2015 1PM)

CDC Information: A Parent's Guide to Hearing Loss
Brand (Posted: Feb 25, 2015 0PM)

CDC Information: About 1 out of 2 cases of hearing loss in babies is due to genetic causes
Brand (Posted: Feb 25, 2015 0PM)

CDC Information: Doctors and Infant Hearing
How Children Can Be "Lost" to the Early Hearing System Brand (Posted: Feb 25, 2015 0PM)

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Epiphyseal dysplasia hearing loss dysmorphism
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Mastocytosis cutaneous with short stature conductive hearing loss and microtia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Nonsyndromic hereditary sensorineural hearing loss
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Congenital ectodermal dysplasia with hearing loss
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Camptodactyly, tall stature, and hearing loss syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Sudden sensorineural hearing loss
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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