ABCMdb

PMID: 17277736

Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Ramos C, Ayuso C
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.
Mol Vis. 2007 Jan 26;13:96-101., [PubMed]

Sentences

No. Mutations Sentence Comment

23 ABCA4 p.Arg1129Leu Results: Apatient with STGD caused by the homozygous p.Arg1129Leu mutation in the ABCA4 gene was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. Login to comment 45 ABCA4 p.Arg1129Leu The patient (02/725) shows a homozygous pattern for the missense p.Arg1129Leu mutation. Login to comment 54 ABCA4 p.Arg1129Leu Molecular and cytogenetics analyses: In this molecular study, we identified a 40-year-old woman diagnosed with STGD in childhood, who had an apparently homozygous pattern for the missense p.Arg1129Leu (c.3386G>T) mutation. Login to comment 55 ABCA4 p.His423Arg No other pathogenic mutation aside from two homozygous polymorphisms (p.His423Arg (c.1268A>G), IVS33+48 C>T) [16,17], were found in the screening of the gene using the ABCR400 microarray. Login to comment 57 ABCA4 p.Arg1129Leu The R1129L mutation was present in a heterozygous pattern in her unaffected father, but interestingly her mother did not harbor this change (Figure 2). Login to comment 60 ABCA4 p.Arg1129Leu To elucidate the possibility that the homozygous p.Arg1129Leu variant was due to a deletion spanning the maternal ABCA4 gene, we obtained standard and HR karyotypes from the patient. Login to comment 71 ABCA4 p.Arg1129Leu In this affected woman, the homozygous p.Arg1129Leu mutation was identified. Login to comment 84 ABCA4 p.Arg1129Leu The course and severity of the proband`s visual disorder fit well within the range of clinical phenotypes exhibited by other reported STGD patients carrying the homozygous p.Arg1129Leu mutation. Login to comment 120 ABCA4 p.Arg1129Leu Apart from the detection of the homozygous p.Arg1129Leu mutation, the information of the homozygosity for both intragenic polymorphisms provided by the ABCR400 chip, added to the suspicion of noncontribution of the maternal allele. Login to comment