ArticleJournal of human genetics2007
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.
Article in Journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 70 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
- Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.BMC medical genomics · 2024Article
- Article
- Article
- The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor.Frontiers in molecular biosciences · 2022Review
- 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
- Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics.Frontiers in genetics · 2022Article
- Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.BMC ophthalmology · 2021Article
- Novel Biallelic Variants and Phenotypic Features in Patients withInternational journal of molecular sciences · 2021Article
- Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.Frontiers in cell and developmental biology · 2021Article
- FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.Investigative ophthalmology & visual science · 2020Article
- p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.Frontiers in cell and developmental biology · 2020Article
- X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.BMC medical genetics · 2019Review
- Identification of a novelJournal of genetics · 2018Article
- Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.Molecular medicine reports · 2017Article
- Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.Scientific reports · 2017Article
- A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family.Indian journal of ophthalmology · 2016Article
- Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus.BMJ open · 2016Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital nystagmus is characterized by involuntary, rhythmical, repeated oscillations of one or both eyes. We studied a large Chinese family with nystagmus as a prominent and consistent manifestation phenotype in nine patients to map and identify a disease-causing gene for nystagmus. X-linked recessive inheritance was observed in the family, and foveal hypoplasia was detected in some of the nine patients. The disease gene was mapped to an approximately 10.6 Mb region flanked by DXS996 and DXS7593 on Xp22 with a significant peak multipoint LOD score. Analysis of 21 candidate genes in the region revealed a novel p.S89F mutation in the second transmembrane domain of GPR143, a G protein-coupled receptor which causes ocular albinism when mutated. All male patients in the family were hemizygous for the mutation; the female carriers were heterozygous for the mutation. The p.S89F mutation was not identified in 100 normal females or 100 normal males. Our results indicate that a mutation in the GPR143 gene can cause a variant form of ocular albinism, with congenital nystagmus as the most prominent and only consistent finding in all patients in this Chinese family. These results expand the spectrum of clinical phenotypes associated with GPR143 mutations.
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