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Article

Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus.

Scientific reports - 17 Jan 2014

Zhang Xiao, Ge Xianglian, Yu Ying, Zhang Yilan, Wu Yaming, Luan Yin, Sun Ji, Qu Jia, Jin Zi-Bing, Gu Feng

Abstract excerpt

Idiopathic congenital nystagmus (ICN) consists of involuntary and periodic ocular motility, often with seriously reduced visual acuity. To identify the genetic defects associated with X-linked ICN, we performed PCR-based DNA direct sequencing of two candidate genes, FRMD7 and GPR143, in four families. Mutation analysis led to identification of three novel mutations, p.S260R, p.Q487X, and p.V549Y fsX554, in FRMD7...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

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Source

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Identifiers

PMID: 24434814
DOI: 10.1038/srep03745
PMCID: PMC3894538

Genes

FRMD7
CASK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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