ArticleScientific reports2015
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital 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 17 papers.
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Who cites it
17 citing papers in PubMed, 23 citations in OpenAlex.
- A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.Molecular medicine reports · 2020Trial
- Review
- Screening copy number variations in 35 unsolved inherited retinal disease families.Human genetics · 2024Article
- Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor.Gene therapy · 2023Article
- Article
- Infantile nystagmus without overt eye abnormality: Early features and neuro-ophthalmological diagnosis.Developmental medicine and child neurology · 2022Article
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.International journal of molecular sciences · 2022Article
- The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor.Frontiers in molecular biosciences · 2022Review
- Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.BMC ophthalmology · 2021Article
- Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.Frontiers in cell and developmental biology · 2021Article
- Management of nystagmus in children: a review of the literature and current practice in UK specialist services.Eye (London, England) · 2020Review
- Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus.Journal of clinical laboratory analysis · 2020Article
- Clinical and genetic variability in children with partial albinism.Scientific reports · 2019Article
- Protective Effect of Ginsenoside Rg1 on Oxidative Damage Induced by Hydrogen Peroxide in Chicken Splenic Lymphocytes.Oxidative medicine and cellular longevity · 2019Article
- Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.Scientific reports · 2017Article
- The clinical evaluation of infantile nystagmus: What to do first and why.Ophthalmic geneticsReview
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-linked congenital idiopathic nystagmus. In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations. After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K). Optical coherence tomography (OCT) examination showed foveal hypoplasia in all the affected patients with nystagmus. Our study further expands the GPR143 mutation spectrum and contributes to the study of GPR143 molecular pathogenesis. Molecular diagnosis and optical coherence tomography (OCT) are two useful tools for differential diagnosis.
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