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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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104 hot topic(s) found with the query "Deafness"

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. "

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.

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.

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.

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.

Health Equity for People with Disabilities
CDC, July 2021 Brand (Posted: Jul 08, 2021 8AM)

An estimated one in four, or 61 million adults in the United States reported a disability. People with disabilities (such mobility limitations, deafness and blindness, or intellectual disabilities) face many challenges to achieving optimal health and accessing high-quality health care. Data from 2019 shows, compared to people without disabilities, people with disabilities have less access to health care, have more depression and anxiety, engage more often in risky health behaviors such as smoking, and are less physically active.

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.
Downie Lilian et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan (Posted: Jan 25, 2020 8AM)

Genomic newborn screening raises practical and ethical issues. Evidence is required to build a framework to introduce this technology safely and effectively. We investigated the choices made by a diverse group of parents with newborns when offered tiered genomic information from exome sequencing.

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
Sakuma Naoko et al. Journal of human genetics 2016 Jan (Posted: Jan 20, 2016 0PM)

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)

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)

Macrothrombocytopenia progressive deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Microcephaly deafness syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Enchondromatosis dwarfism deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness conductive ptosis skeletal anomalies
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Albinism deafness syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Albinism ocular late onset sensorineural deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Arthritis short stature deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Arthrogryposis-like hand anomaly and sensorineural deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cardiomyopathy diabetes deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cardiomyopathy and deafness due to tRNA lysine gene mutation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cataract ataxia deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Caudal appendage deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cleft palate colobomata radial synostosis deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Conductive deafness with malformed external ear
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Corneal dystrophy and perceptive deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Craniofacial deafness hand syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness conductive stapedial ear malformation facial palsy
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness craniofacial syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness enamel hypoplasia nail defects
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, epiphyseal dysplasia, short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness goiter stippled epiphyses
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness hyperuricemia neurologic ataxia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness hypogonadism syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness hypospadias metacarpal and metatarsal syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness mesenteric diverticula of small bowel neuropathy
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness mixed with perilymphatic Gusher, X-linked
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness nephritis anorectal malformation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness oligodontia syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness peripheral neuropathy arterial disease
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness progressive cataract autosomal dominant
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Congenital deafness with vitiligo and achalasia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness X-linked, DFN3
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, autosomal dominant nonsyndromic sensorineural 23
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, isolated, due to mitochondrial transmission
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, neurosensory nonsyndromic recessive, DFN
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, X-linked, DFN
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Dwarfism deafness retinitis pigmentosa
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Thickened earlobes with conductive deafness from incus-stapes abnormalities
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Ectodermal dysplasia neurosensory deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Ichthyosiform erythroderma, corneal involvement, deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Keratoderma palmoplantar deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Knuckle pads, leuconychia and sensorineural deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Microtia, meatal atresia and conductive deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Myoclonus cerebellar ataxia deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Nephropathy, deafness, and hyperparathyroidism
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Nephrosis deafness urinary tract digital malformation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Neutropenia monocytopenia deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Maternally inherited diabetes and deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Olivopontocerebellar atrophy deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Optic atrophy opthalmoplegia ptosis deafness myopia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Optic atrophy polyneuropathy deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Phocomelia ectrodactyly deafness sinus arrhythmia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, X-linked 2
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Renal caliceal diverticuli deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Renal tubular acidosis with deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Retinis pigmentosa deafness hypogenitalism
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Retinitis pigmentosa-deafness syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Autosomal dominant deafness-onychodystrophy syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature deafness neutrophil dysfunction
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature microcephaly seizures deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Progressive deafness with stapes fixation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Familial deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, autosomal dominant nonsyndromic sensorineural 24
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, autosomal dominant nonsyndromic sensorineural 22
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, autosomal dominant nonsyndromic sensorineural 17
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Optic atrophy 1 and deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, autosomal recessive 51
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, autosomal recessive 55
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, autosomal dominant nonsyndromic sensorineural 3
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, autosomal dominant nonsyndromic sensorineural 53
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, neurosensory, autosomal recessive 47
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Arthrogryposis multiplex with deafness, inguinal hernias, and early death
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness-infertility syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

more


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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