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Article

Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.

Scientific reports - 30 Oct 2013

Zhu Yihua, Zhuang Jianfu, Ge Xianglian, Zhang Xiao, Wang Zheng, Sun Ji, Yang Juhua, Gu Feng

Abstract excerpt

Congenital Nystagmus (CN) is a genetically heterogeneous ocular disease, which causes a significant proportion of childhood visual impairment. To identify the underlying genetic defect of a CN family, twenty-two members were recruited. Genotype analysis showed that affected individuals shared a common haplotype with markers flanking FRMD7 locus. Sequencing FRMD7 revealed a T > C transition in exon 8, causing a...

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Source

Open in PubMed Open full text

Identifiers

PMID: 24169426
DOI: 10.1038/srep03084
PMCID: PMC3812648

Genes

FRMD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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