ArticleMolecular vision2013
A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.
Article in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.Frontiers in cell and developmental biology · 2022Article
- Sporadic zonular cataract found by scleral penetration.American journal of ophthalmology case reports · 2021Article
- 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
- The impact of GJA8 SNPs on susceptibility to age-related cataract.Human genetics · 2018Article
- Detection of c.139G>A (D47N) mutation inJournal of genetics · 2018Article
- Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.BMC ophthalmology · 2017Article
- Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts.Iranian journal of basic medical sciences · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.Scientific reports · 2016Article
- Mutation analysis of two families with inherited congenital cataracts.Molecular medicine reports · 2015Article
- Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract.Journal of genetics · 2015Article
- A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.BMC medical genetics · 2014Article
- Article
- A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.International journal of medical sciences · 2014Article
- Identification of a Missense Mutation inJournal of current ophthalmologyArticle
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract.
methodsDetailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Candidate genes were amplified using PCR and screened for mutations using bidirectional sequencing.
resultsAffected individuals had nuclear and zonular pulverulent cataract with Y-sutural opacities. Sequencing of the candidate genes revealed a heterozygous c. 139G>C change in the coding sequence of the connexin 50 gene (gap junction protein, alpha 8 [GJA8]), which results in the substitution of a wild-type aspartic acid with a histidine (D47H). This mutation cosegregated with all affected individuals in the family and was not found in unaffected family members or in 100 unrelated controls.
conclusionsOur study has identified a novel connexin 50 gene (GJA8) mutation, resulting in the amino substitution p. D47H in a Chinese family with nuclear and zonular pulverulent congenital cataracts. This mutation is probably the causative lesion for the observed phenotype in this family.
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23592913PMC3626375W43799473What OpenQuestion holds
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