Journal of Clinical and Experimental Ophthalmology
Open Access

Abstract

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

Xiaojuan Wang, Ningdong Li, Ming Ying, Suyan Li and Kanxing Zhao

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.