ABCA4 p.Gly991*
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PMID: 15017103
[PubMed]
Simonelli F et al: "Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family."
No.
Sentence
Comment
7
A homozygous nonsense mutation 2971G1T (G991X) was detected in a patient initially diagnosed with STGD based on funduscopic evidence, including bull`s eye depigmentation of the fovea and flecks at the posterior pole extending to the mid-peripheral retina.
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ABCA4 p.Gly991* 15017103:7:40
status: NEW46 This novel nucleotide substitution results in a G991X nonsense mutation and, therefore, in a truncated, nonfunctional, ABCA4 protein.
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ABCA4 p.Gly991* 15017103:46:48
status: NEW58 were, as expected, heterozygous for the G991X mutation, while both siblings lacked it altogether, presenting homozygous wild-type alleles.
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ABCA4 p.Gly991* 15017103:58:40
status: NEW75 Study subjects 1134 and 1135, the brother and the sister of patient 1133, aged 18 and 20 years, respectively, showed normal visual acuity and normal fundus appearance, correlating with their normal genotype lacking the G991X mutation.
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ABCA4 p.Gly991* 15017103:75:219
status: NEW76 Discussion This study describes segregation of a novel homozygous nonsense ('severe`) mutation, G991X, in the ABCA4 gene in an Italian family with a clinical phenotype of CRD.
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ABCA4 p.Gly991* 15017103:76:96
status: NEW90 The proband of the family described in this study was homozygous for a G991X mutation, which terminates the protein at exon 20, rendering a 'knockout` for the ABCA4 gene.
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ABCA4 p.Gly991* 15017103:90:71
status: NEW
PMID: 14517951
[PubMed]
Jaakson K et al: "Genotyping microarray (gene chip) for the ABCR (ABCA4) gene."
No.
Sentence
Comment
194
In the Italian cohort we detected two new variants, one of which was a homozygous 2971G>T (G991X) nonsense mutation in one STGD patient.
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ABCA4 p.Gly991* 14517951:194:91
status: NEW