ArticleMolecular vision2011
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 37 citations in OpenAlex.
- Human Crystallin Variation and Cataract.Investigative ophthalmology & visual science · 2026Review
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.European journal of human genetics : EJHG · 2024Article
- Mutation screening in autosomal dominant congenital cataract families from North India.Molecular genetics and genomics : MGG · 2023Article
- Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.Frontiers in cell and developmental biology · 2022Article
- Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant.Biophysical journal · 2021Article
- The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.BMC ophthalmology · 2020Article
- Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family.Bioscience reports · 2020Article
- New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Human genetics · 2019Article
- Mutation profiles of congenital cataract genes in 21 northern Chinese families.Molecular vision · 2018Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.PloS one · 2017Article
- Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.Scientific reports · 2016Article
- Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.BMC research notes · 2016Article
- Differential role of arginine mutations on the structure and functions of α-crystallin.Biochimica et biophysica acta · 2016Review
- The First Extracellular Domain Plays an Important Role in Unitary Channel Conductance of Cx50 Gap Junction Channels.PloS one · 2015Article
- Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).Transactions of the American Ophthalmological Society · 2015Article
- Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating.The Journal of physiology · 2014Article
- Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.PloS one · 2014Article
- Connexin mutants and cataracts.Frontiers in pharmacology · 2013Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify mutations in 6 genes of 9 Chinese families with congenital cataract and microcornea.
methodsNine unrelated families with congenital cataract and microcornea were collected. Cycle sequencing was used to detect variants in the coding and adjacent regions of the crystallin alpha A (CRYAA), crystallin beta B1 (CRYBB1), crystallin beta A4 (CRYBA4), crystallin gamma C (CRYGC), crystallin gamma D (CRYGD), and gap junction protein alpha 8 (GJA8) genes.
resultsUpon complete analysis of the 6 genes, three mutations in 2 genes were detected in 3 families, respectively. These mutations were not present in 96 normal controls. Of the three mutations, two novel heterozygous mutations in GJA8, c.136G>A (p.Gly46Arg) and c.116C>G (p.Thr39Arg), were found in two families with congenital cataract and microcornea. The rest one, a heterozygous c.34C>T (p.Arg12Cys) mutation in CRYAA, was identified in three patients from a family with nuclear cataract, microcornea with axial elongation. No mutation in the 6 genes was detected in the remaining 6 families.
conclusionsMutations in GJA8 and CRYAA were identified in three families with cataract and microcornea. Elongation of axial length accompanied with myopia was a novel phenotype in the family with the c.34C>T mutation in CRYAA. Our results expand the spectrum of GJA8 mutations as well as their associated phenotypes.
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Registered trials
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