GPRASP2, a Novel Causative Gene implicated in an X-Linked Recessive Syndromic Hearing Loss

We reported a novel X-linked recessive syndromic hearing loss (SHL) combined with unique and unrecognized clinical features in a five-generation Chinese family. To identify the genetic cause of X-linked SHL, targeted X-chromosome exome sequencing (XES) was conducted. A 2-base pair missense mutation (c.1717_1718GC>AA, p.A573N) in the G protein-coupled receptor associated sorting protein 2 (GPRASP2) gene was identified by XES and cosegregation analysis. In silico analysis and the expression of homologous Gprasp2 in the mouse cochlea strongly suggested the implication of GPRASP2 in hearing function, and its role in the occurrence of X-linked SHL was still needed to be further investigated. (By Professor Xin Cao, http://jmg.bmj.com/content/early/2017/01/17/jmedgenet-2016-104320 )