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Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Oct 21, 2021
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Genetic testing in the neonatal ICU
K O'Leary, Nature Medicine, October 2021

First-line whole-genome sequencing may lead to more-focused clinical management for infants with a suspected genetic disease. Genetic disorders are a leading cause of admissions to the neonatal intensive care unit (NICU) in the United States. Clinical studies report that whole-genome sequencing (WGS) is useful for precision diagnosis, but its implementation is limited by a lack of studies showing an effect on clinical management.

Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing
C Chen et al, BMC Medical Genomics, October 9, 2021

Though massively parallel sequencing has been widely applied to noninvasive prenatal screen for common trisomy, the clinical use of massively parallel sequencing to noninvasive prenatal diagnose monogenic disorders is limited. This study was to develop a method for directly determining paternal haplotypes for noninvasive prenatal diagnosis of monogenic disorders without requiring proband’s samples.

Genetics of diaphragmatic hernia.
Schreiner Yannick et al. European journal of human genetics : EJHG 2021 10

Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarizes the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia.

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
Mendes de Oliveira Edson et al. The New England journal of medicine 2021 10

We performed exome sequencing and targeted resequencing in 2548 children who presented with severe obesity, and we unexpectedly identified 22 GNAS mutation carriers. We investigated whether the effect of GNAS mutations on melanocortin 4 receptor (MC4R) signaling explains the obesity and whether the variable clinical spectrum in patients might be explained by the results of molecular assays. Almost all GNAS mutations impaired MC4R signaling. A total of 6 of 11 patients who were 12 to 18 years of age had reduced growth.

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