Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder.

[The place of pediatricians in newborn screening].

Newborn screening was implemented in France 40 years ago, initiated by a small group of pediatricians and biologists. Pediatricians play a central role in this action, from the reflection on new prospects to the care of affected children. This article reviews all the steps in newborn screening where pediatricians play a role as well as recent and future changes.