ABCMdb

PMID: 20149343

Sohrab MA, Allikmets R, Guarnaccia MM, Smith RT
Preimplantation genetic diagnosis for stargardt disease.
Am J Ophthalmol. 2010 Apr;149(4):651-655.e2. Epub 2010 Feb 10., [PubMed]

Sentences

No. Mutations Sentence Comment

26 ABCA4 p.Gly1961Glu The c5018ϩ2CϾT variant is a relatively rare splice site mutation that has been associated with Stargardt disease in at least 2 studies.12,13 The c5882GϾA substitution, resulting in the G1961E amino acid change, is an extensively characterized and one of the most frequent STGD mutations. Login to comment 27 ABCA4 p.Gly1961Glu The c5018af9;2Cb0e;T variant is a relatively rare splice site mutation that has been associated with Stargardt disease in at least 2 studies.12,13 The c5882Gb0e;A substitution, resulting in the G1961E amino acid change, is an extensively characterized and one of the most frequent STGD mutations. Login to comment 28 ABCA4 p.Arg152Gln The c455GϾA variant, resulting in R152Q protein change, has been described in at least 3 studies.11-13 In 1,11 the variant was described as a "rare variant" since it was also detected in controls. Login to comment 29 ABCA4 p.Arg152Gln The c455Gb0e;A variant, resulting in R152Q protein change, has been described in at least 3 studies.11-13 In 1,11 the variant was described as a "rare variant" since it was also detected in controls. Login to comment 31 ABCA4 p.Arg152Gln In this particular case, the R152Q variant was considered possibly pathogenic to avoid the potential disease expression in compound heterozygous state. Login to comment 32 ABCA4 p.Arg152Gln In this particular case, the R152Q variant was considered possibly pathogenic to avoid the potential disease expression in compound heterozygous state. Login to comment 42 ABCA4 p.Arg152Gln Results showed that she was a carrier of the c455GϾA (R152Q) ABCA4 variant. Login to comment 43 ABCA4 p.Gly1961Glu ABCA4 p.Arg152Gln The same testing on the affected husband found 2 Stargardt disease-associated mutations, the splice site-affecting c5018ϩ2CϾT mutation and the c5882GϾA (G1961E) mutation, thereby confirming the clinical diagnosis of STGD. Login to comment 44 ABCA4 p.Gly1961Glu The same testing on the affected husband found 2 Stargardt disease-associated mutations, the splice site-affecting c5018af9;2Cb0e;T mutation and the c5882Gb0e;A (G1961E) mutation, thereby confirming the clinical diagnosis of STGD. Login to comment