Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) for an autosomal-recessive nonsyndromic deafness locus (DFNB). Whole-exome sequencing allowed us to identify a CDC14A biallelic nonsense mutation, c.1126C>T (p.Arg376∗), which was present in the eight clinically affected individuals still alive. Subsequent screening of 115 unrelated individuals affected by severe or profound congenital deafness of unknown genetic cause led us to identify another CDC14A biallelic nonsense mutation, c.1015C>T (p.Arg339∗), in an individual originating from Mauritania.

Source: The American Journal of Human Genetics - June 1, 2016 Category: Genetics & Stem Cells Authors: Sedigheh Delmaghani, Asadollah Aghaie, Yosra Bouyacoub, Hala El Hachmi, Crystel Bonnet, Zied Riahi, Sebastien Chardenoux, Isabelle Perfettini, Jean-Pierre Hardelin, Ahmed Houmeida, Philippe Herbomel, Christine Petit Tags: Report Source Type: research