Article
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Human mutation - 1 Dec 2016
Lerat Justine, Jonard Laurence, Loundon Natalie, Christin-Maitre Sophie, Lacombe Didier, Goizet Cyril, Rouzier Cécile, Van Maldergem Lionel, Gherbi Souad, Garabedian Eréa-Nöel, Bonnefont Jean-Paul, Touraine Philippe, Mosnier Isabelle, Munnich Arnold, Denoyelle Françoise, Marlin Sandrine
Abstract excerpt
Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes have been identified: C10orf2, CLPP, HARS2, HSD17B4, and LARS2. Probands included are presented with sensorineural deafness associated with gonadic dysgenesis. DNA was sequenced using next-generation sequencing (NGS) with a panel of 35 deafness genes including the five...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.