ArticleScientific reports2013
Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.
Article in Scientific reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 28 citations in OpenAlex.
- Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.BMC medical genomics · 2024Article
- Article
- Correlations of FRMD7 gene mutations with ocular oscillations.Scientific reports · 2022Article
- 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
- Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus.Journal of clinical laboratory analysis · 2020Article
- 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 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
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Authors and funding
8 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 conservative substitution of Isoleucine to Tyrosine at codon 240. By protein structural modeling, we found the mutation may disrupt the hydrophobic core and destabilize the protein structure. We reviewed the literature and found that exons 2, 8, and 9 (11.4% of the sequence of FRMD7 mRNA) represent the majority (55.3%) of the reported FRMD7 mutations. In summary, we identified a novel mutation in FRMD7, showed its molecular consequence, and revealed the mutation-rich exons of the FRMD7 gene. Collectively, this provides molecular insights for future CN clinical genetic diagnosis and treatment.
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