ArticleEuropean journal of human genetics : EJHG2012
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 36 citations in OpenAlex.
- Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene.Heliyon · 2024Article
- Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.BMC medical genomics · 2024Article
- Article
- X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.Frontiers in ophthalmology · 2022Article
- Clinical utility gene card for FRMD7-related infantile nystagmus.European journal of human genetics : EJHG · 2021Article
- A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family.BMC medical genetics · 2019Article
- Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene.Molecular medicine reports · 2018Article
- A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family.Indian journal of ophthalmology · 2016Article
- A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.Scientific reports · 2015Article
- A FRMD7 variant in a Japanese family causes congenital nystagmus.Human genome variation · 2015Article
- Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.Scientific reports · 2013Article
- Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.Journal of Zhejiang University. Science. B · 2013Article
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
Congenital nystagmus (NYS) is characterized by bilateral, spontaneous, and involuntary movements of the eyeballs that most commonly presents between 2 and 6 months of life. To date, 44 different FRMD7 gene mutations have been found to be etiological factors for the NYS1 locus at Xq26-q27. The aim of this study was to find the FRMD7 gene mutations in a large eleven-generation Indian pedigree with 71 members who are affected by NYS. Mutation analysis of the entire coding region and splice junctions of the FRMD7 gene revealed a novel missense mutation, c.A917G, predicts a substitution of Arg for Gln at codon 305 (Q305R) within exon 10 of FRMD7. The mutation was detected in hemizygous males, and in homozygous and heterozygous states in affected female members of the family. This mutation was not detected in unaffected members of the family or in 100 unrelated control subjects. This mutation was found to be at a highly conserved residue within the FERM-adjacent domain in affected members of the family. Structure prediction and energetic analysis of wild-type FRMD7 compared with mutant (Q305R) revealed that this change in amino acid led to a change in secondary structure predicted to be an energetically unstable protein. The present study represents the first confirmation of FRMD7 gene mutations in a multigenerational Indian family and expands the mutation spectrum for this locus.
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