ABCMdb

PMID: 16896346

Ducroq D, Shalev S, Habib A, Munnich A, Kaplan J, Rozet JM
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
Eur J Hum Genet. 2006 Dec;14(12):1269-73. Epub 2006 Aug 9., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu Three different ABCA4 mutations were identified: (i) c.5460 þ 1G4A (M1), (ii) c.5882G4A (p.G1961E; M2) and (iii) c.3607G4A (p.G1202R; M3). Login to comment 59 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu The two affected sibs compound heterozygote for the c.5460 þ 1G4A splice-site mutation (M1) and the p.G1961E mutation (M2; patients III1, III2) were as severely affected as patients homozygous for the splice-site mutation. Login to comment 60 ABCA4 p.Gly1961Glu Thus, it is likely that the p.G1961E mutation significantly affects the function of the protein. Login to comment 61 ABCA4 p.Gly1961Glu This notion is supported by the functional study of this mutation, which showed that the mutant protein exhibited a reduced basal ATPase activity that is inhibited, rather than stimulated, by retinal.17 Additionally, it is worth noting that the p.G1961E mutation has already been found to be associated with arCRD.18,19 Two patients were compound heterozygous for the c.5460 þ 1G4A splice-site mutation (M1) and the p.G1202R substitution (M3, patients IV4 and V1; Figure 1). Login to comment 71 ABCA4 p.Gly1961Glu Finally, one patient (IV5) was found to carry the p.G1961E and p.G1202R missense mutations. Login to comment 73 ABCA4 p.Gly1961Glu The phenotype of this woman associated with compound heterozygosity for the p.G1961E and p.G1202R mutations is less severe than the association of one of them with the c.5460 þ 1G4A splice-site mutation. Login to comment