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A FRMD7 variant in a Japanese family causes congenital nystagmus.

ABSTRACT: Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.

SUBMITTER: Kohmoto T

PROVIDER: S-EPMC4785577 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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A FRMD7 variant in a Japanese family causes congenital nystagmus.

Kohmoto Tomohiro T Okamoto Nana N Satomura Shigeko S Naruto Takuya T Komori Takahide T Hashimoto Toshiaki T Imoto Issei I

Human genome variation 20150212

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked IC ...[more]

PMID: 27081518

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A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

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

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