A Novel Missense Mutation, R279S, in FRMD7 Gene in a Chinese Family with X-linked Infantile Nystagmus

Xiaojuan Wang

doi:10.4172/2155-9570.1000200

Abstract

Purpose: To identify the gene mutations causing an X-linked Chinese Family with infantile nystagmus. Methods: Families were ascertained and patients underwent complete ophthalmological examinations. Blood samples were collected and DNA was extracted. Four microsatellites were amplified by PCR reaction for linkage study. FRMD7 gene was sequenced and mutations analyzed. Results: A significant lod score of 2.4 was yielded at the microsatellite marker DXS1001. Sequencing of FRMD7 gene showed a nucleotide change of c. 837G>C in the exon9 of FRMD7 gene in the patients, which predicted to result in an R279S amino acid change. This novel mutation was absent in 100 normal Han Chinese controls. Conclusions: We identified a novel mutation, c. 837G>C (p. R279S), in a Han Chinese family with Infantile nystagmus. This mutation expands the mutation spectrum of FRMD7 and help to further study molecular pathogenesis of FRMD7.

Highlights

Infantile nystagmus (IN) is a group of clinically and genetically inheritable ocular motor disease
More than 40 mutations in the FRMD7 gene have been reported worldwide in families with X-linked IN from various ethnic backgrounds. [3,4,5,6,7,8,9,10,11,12] Here, we reported a Chinese family with X-linked nystagmus
The family NYS009 was from Henan province, and included 3 facts: 1) It is absent in 100 normal controls

Summary

Introduction

Infantile nystagmus (IN) is a group of clinically and genetically inheritable ocular motor disease. More than 40 mutations in the FRMD7 gene have been reported worldwide in families with X-linked IN from various ethnic backgrounds. [3,4,5,6,7,8,9,10,11,12] Here, we reported a Chinese family with X-linked nystagmus. Linkage analysis shows linkage to a region of chromosome Xq26-q27 including FRMD7 gene.

Results

Conclusion