ABCMdb

PMID: 15017103

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Rinaldi E, Allikmets R
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.
Ophthalmic Res. 2004 Mar-Apr;36(2):82-8., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCA4 p.Gly991* 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. Login to comment 46 ABCA4 p.Gly991* This novel nucleotide substitution results in a G991X nonsense mutation and, therefore, in a truncated, nonfunctional, ABCA4 protein. Login to comment 47 ABCA4 p.Gly991Arg The previously described sequence change at this position was 2971G1C, a G991R missense mutation. Login to comment 58 ABCA4 p.Gly991* were, as expected, heterozygous for the G991X mutation, while both siblings lacked it altogether, presenting homozygous wild-type alleles. Login to comment 75 ABCA4 p.Gly991* 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. Login to comment 76 ABCA4 p.Gly991* 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. Login to comment 89 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro Finally, a homozygous complex allele L541P/A1038V has been associated with both CRD [13] and STGD [32] phenotype. Login to comment 90 ABCA4 p.Gly991* 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. Login to comment