FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus.

ABSTRACT: Congenital idiopathic nystagmus (CIN) is an oculomotor disorder characterized by repetitive and rapid involuntary movement of the eye that usually develops in the first six months after birth. Unlike other forms of nystagmus, CIN is widely associated with mutations in the FRMD7 gene. This study involves the molecular genetic analysis of a consanguineous Pakistani family with individuals suffering from CIN to undermine any potential pathogenic mutations. Blood samples were taken from affected and normal individuals of the family. Genomic DNA was extracted using an in-organic method. Whole Exome Sequencing (WES) and analysis were performed to find any mutations in the causative gene. To validate the existence and co-segregation of the FRMD7 gene variant found using WES, sanger

SUBMITTER: Arshad MW 

PROVIDER: S-EPMC9957179 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature