ABCMdb

PMID: 24509150

Serapinas D, Obrikyte V, Sakalauskas R
Stargardt disease caused by a rare combination of double homozygous mutations.
Medicina (Kaunas). 2013;49(8):386-91., [PubMed]

Sentences

No. Mutations Sentence Comment

46 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro The analysis of the DNA testing results showed 2 mutations in the ABCA4 gene: a nucleotide substitution in exon 12 (c.1622T>C; L541P) and a nucleotide substitution in exon 21 (c.3113C>T; A1038V). Login to comment 47 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro The analysis of the DNA testing results showed 2 mutations in the ABCA4 gene: a nucleotide substitution in exon 12 (c.1622T>C; L541P) and a nucleotide substitution in exon 21 (c.3113C>T; A1038V). Login to comment 59 ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Leu541Pro Several studies have identified frequent ethnic group-specific ABCA4 alleles, such as the c.2588G>C variant resulting in a dual effect, p.G863A/delG863 as a founder mutation in Northern European patients with Stargardt disease, and a complex allele p.L541P/A1038V in the patients of the German origin who have both Stargardt disease and cone-rod dystrophy. Login to comment 60 ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Leu541Pro Several studies have identified frequent ethnic group-specific ABCA4 alleles, such as the c.2588G>C variant resulting in a dual effect, p.G863A/delG863 as a founder mutation in Northern European patients with Stargardt disease, and a complex allele p.L541P/A1038V in the patients of the German origin who have both Stargardt disease and cone-rod dystrophy. Login to comment 63 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro Our presented mutations (L541P and A1038V) are not rare in Stargardt disease, but in this case, the disease was caused by a rare combination of double homozygous mutations. Login to comment 64 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro Our presented mutations (L541P and A1038V) are not rare in Stargardt disease, but in this case, the disease was caused by a rare combination of double homozygous mutations. Login to comment 66 ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro A1038V, a missense mutation, is reported as one of the most common mutations in the ABCA4 gene when is detected as a component of the complex allele L541P/A1038V. Login to comment 67 ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro A1038V, a missense mutation, is reported as one of the most common mutations in the ABCA4 gene when is detected as a component of the complex allele L541P/A1038V. Login to comment 68 ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro The complex allele demonstrates mislocalization and therefore reduced function of the ABCA4 protein, while the protein associated with A1038V alone does not mislocalize. Login to comment 69 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro A1038V is also pathogenic without L541P as it has a deleterious impact on ATPase by ABCA4 in vitro (13). Login to comment