Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

doi:10.1038/ng1893

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Article

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Nature genetics - 1 Nov 2006

Tarpey Patrick, Thomas Shery, Sarvananthan Nagini, Mallya Uma, Lisgo Steven, Talbot Chris J, Roberts Eryl O, Awan Musarat, Surendran Mylvaganam, McLean Rebecca J, Reinecke Robert D, Langmann Andrea, Lindner Susanne, Koch Martina, Jain Sunila, Woodruff Geoffrey, Gale Richard P, Bastawrous Andrew, Degg Chris, Droutsas Konstantinos, Asproudis Ioannis, Zubcov Alina A, Pieh Christina, Veal Colin D, Machado Rajiv D, Backhouse Oliver C, Baumber Laura, Constantinescu Cris S, Brodsky Michael C, Hunter David G, Hertle Richard W, Read Randy J, Edkins Sarah, O'Meara Sarah, Parker Adrian, Stevens Claire, Teague Jon, Wooster Richard, Futreal P Andrew, Trembath Richard C, Stratton Michael R, Raymond F Lucy, Gottlob Irene

Abstract excerpt

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 m...

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Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17013395
DOI: 10.1038/ng1893
PMCID: PMC2592600

Genes

FRMD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17013395-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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