Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4.

ABSTRACT:

Purpose

Usher syndrome is a genetic disease characterized by combined sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia, with 15 known causative genes. Depending on the severity and onset of the symptoms, 3 different subtypes of the pathology have been classically established, although an increasing number of rare cases are being accumulated as atypical forms. The present work aims to discover the genetic cause in a patient with atypical Usher syndrome, by performing whole exome sequencing in several family members.

Observations

The obtained results identified a novel homozygous missense mutation (p.Asp44Asn) in the ARSG gene as the cause of the disease, which was characterized by late-onset progressive symptoms in the patient. A resembling ph

SUBMITTER: Abad-Morales V 

PROVIDER: S-EPMC7235610 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature