ArticleJapanese journal of ophthalmology2011
Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.
Article in Japanese journal of ophthalmology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 17 citations in OpenAlex.
- Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.Molecular genetics & genomic medicine · 2025Article
- Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.Molecular vision · 2025Article
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- Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.Molecular vision · 2020Article
- An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.Experimental eye research · 2018Article
- In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.Japanese journal of ophthalmology · 2017Article
- Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.Japanese journal of ophthalmology · 2016Article
- Mutation of ATF6 causes autosomal recessive achromatopsia.Human genetics · 2015Article
- Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Scientific reports · 2015Article
- Achromatopsia caused by novel missense mutations in the CNGA3 gene.International journal of ophthalmology · 2015Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo identify the causative variants of achromatopsia (ACHM) in four Pakistani families presenting autosomal recessive ACHM.
methodsFour families (50, 55, 70 and 74) exhibiting features of achromatopsia were subjected to homozygosity mapping with STS markers flanking known ACHM loci. Mutation screening was done for two of the families linked to CNGA3 and CNGB3 by direct sequencing of the coding regions and exon-intron boundaries of genes to find the pathogenic variant.
resultsHomozygosity mapping showed co-segregation of CNGA3 in family 50 and CNGB3 in family 74. Sequencing of coding regions of CNGA3 in family 50 revealed a novel missense mutation, c.827A>G, in exon 7, which results in p.N276S substitution. N276S is located in the S4 motif of the CNGA3 protein and is conserved in all channel proteins. Bioinformatics analysis showed that the N276S substitution altered the channel conformation by shifting the helix. No pathogenic variation was identified in any affected members of family 74 in the coding sequence of CNGB3. The other two families, 55 and 70, were not linked to any known ACHM loci, indicating further heterogeneity of the ACHM phenotype.
conclusionsWe describe a novel S4 motif mutation of CNGA3 in a Pakistani family.
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