ArticleScientific reports2015
A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 33 citations in OpenAlex.
- 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
- Sequence and structure comparison of ATP synthase F0 subunits 6 and 8 in notothenioid fish.PloS one · 2021Article
- Less Is More, Natural Loss-of-Function Mutation Is a Strategy for Adaptation.Plant communications · 2020Review
- Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.Molecular genetics & genomic medicine · 2020Article
- Impaired DNA-binding affinity of novel PAX6 mutations.Scientific reports · 2020Article
- A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.Journal of molecular neuroscience : MN · 2019Article
- 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
- Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene.Experimental and therapeutic medicine · 2017Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic infantile nystagmus (IIN) is the involuntary oscillation of the eyes with onset in the first few months of life. The most common form of inheritance is X-linked, and mutations in FRMD7 gene are a major cause. To identify the FRMD7 gene mutations associated with X-linked IIN, we performed PCR-based DNA direct sequencing in 4 affected subjects from 2 Korean families. We also assessed structural abnormalities of retina and optic nerve head using optical coherence tomography (OCT). Genetic analysis revealed a A>G transversion at nucleotide c.1, the first base of the start codon. This mutation leads to the loss of the primary start codon ATG for methionine, which is replaced by a triplet GTG for valine. The alternative in-frame start codon is not present around a mutation. OCT revealed the morphological changes within the optic nerve head, including shallow cup depth and small cup-to-disc ratio. In summary, we identified a novel start codon mutation within the FRMD7 gene of 2 Korean families. Our data expands the mutation spectrum of FRMD7 causing IIN. We also demonstrated abnormal developments of afferent system in patients with FRMD7 mutations using OCT, which may help to understand the etiological factor in development of nystagmus.
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