A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus.

ABSTRACT:

Purpose

To identify a potential pathogenic mutation in a four-generation Chinese family with X-linked congenital nystagmus (XLCN).

Methods

Routine clinical examination and ophthalmic evaluation were performed on normal controls, two patients and two healthy members of the family. Genomic DNA was prepared from the peripheral blood of members of the family and from 50 normal controls. All coding exons and the intronic boundaries of the four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7) gene were amplified using polymerase chain reaction (PCR) followed by direct sequencing.

Results

A previously unreported splicing mutation, c.163-1 G→T transversion (c.163-1 G>T), was detected preceding exon3 of FRMD7 in the patients but not in the unaffected

SUBMITTER: Hu Y 

PROVIDER: S-EPMC3261083 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature