ABCMdb

PMID: 12796258

Fishman GA, Stone EM, Eliason DA, Taylor CM, Lindeman M, Derlacki DJ
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
Arch Ophthalmol. 2003 Jun;121(6):851-5., [PubMed]

Sentences

No. Mutations Sentence Comment

59 ABCA4 p.Ala1038Val Of the 12 patients with diffuse pigmentary changes (type 1), 4 harbored an Ala1038Val change, which is the second most common ABCA4 variant we have observed in patients with Stargardt disease.19 Two of these 4 patients were African American. Login to comment 60 ABCA4 p.Ala1038Val Of the 12 patients with diffuse pigmentary changes (type 1), 4 harbored an Ala1038Val change, which is the second most common ABCA4 variant we have observed in patients with Stargardt disease.19 Two of these 4 patients were African American. Login to comment 72 ABCA4 p.Leu2027Phe ABCA4 p.Leu1201Arg In 2 instances, the variation was Leu1201Arg, and in another 2 patients it was Leu2027Phe. Login to comment 73 ABCA4 p.Leu2027Phe ABCA4 p.Leu1201Arg In 2 instances, the variation was Leu1201Arg, and in another 2 patients it was Leu2027Phe. Login to comment 80 ABCA4 p.Ala1038Val Twelve patients exhibited a fundus phenotype consisting of diffuse pigmentary changes, and 4 of these harbored an Ala1038Val change, one of the most common ABCA4 variants observed in patients with Stargardt disease. Login to comment 81 ABCA4 p.Leu1201Arg Four patients exhibited minimal fundus pigmentary changes, and 2 of these patients harbored a Leu1201Arg variation. Login to comment 82 ABCA4 p.Gly1961Glu The most common ABCA4 change seen in Stargardt patients, Gly1961Glu, was not observed at all in this cohort of patients with cone-rod dystrophy. Login to comment 83 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro Maugeri et al10 commented that a complex allele consisting of Ala1038Val and Leu541Pro variations on the same allele was found exclusively in their German patients (6 of 14). Login to comment 94 ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Val2050Leu ABCA4 p.Leu2027Phe ABCA4 p.Leu2027Phe ABCA4 p.Leu2027Phe ABCA4 p.Leu2027Phe ABCA4 p.Val767Asp ABCA4 p.Gly550Arg ABCA4 p.Leu1201Arg ABCA4 p.Leu1201Arg ABCA4 p.Leu1201Arg ABCA4 p.Leu1201Arg ABCA4 p.Gly1448Arg ABCA4 p.Gly1448Arg ABCA4 p.Asp600Tyr ABCA4 p.Asp600Tyr Patients With Cone-Rod Dystrophy Patient No./ Age, y/Sex Race/ Ethnicity Visual Acuity Visual Field Fundus Type* Mutation Cone vs Rod ERG ReductionOD OS 1/74/F AA 20/60 - 2 5/600 Central and peripheral loss 1 Gly1448Arg C = R 2/35/F W 10/350 5/400 Central and peripheral loss 1 Ala1038Val Leu541Pro C = R 3/42/F H 20/400 20/400 Central and peripheral loss 1 Ala1038Val Trp1618stop C = R 4/54/F W 10/180 10/140 Central scotoma 1 Donor splice, 5bp3Ј g-a intron 40 C = R 5/36/F W 10/120 10/60 - 1 Central scotoma 1 Leu541Pro Asp600Tyr C ↓ R 6/49/F W 5/160 5/180 Central and peripheral loss 1 Donor splice 5bp3Ј g-a intron 40 C = R 7/49/F W 10/350 4/350 Central and peripheral loss 1 Glu328Stop Val767Asp C = R 8/40/M W 10/225 20/400 Central and peripheral loss 1 Ala1038Val C = R 9/36/M W 5/600 5/350 Central and peripheral loss 1 Gly550Arg C = R 10/39/F AA 20/100 - 2 20/400 Central scotoma 1 Ala1038Val C = R 11/26/F W 20/200 20/200 Central and peripheral loss 1 Val2050Leu C ↓ R 12/36/M W 20/200 20/80+1 Central scotoma 1 Donor splice 5bp3Ј g-a intron 40 C = R 13/43/M AA 20/400 20/200 Central and peripheral loss 2 Leu1201Arg C = R (ND) 14/33/M P 20/40+1 20/50 Central scotoma 2 Leu2027Phe C ↓ R 15/44/M AA CF 20/400 Central and peripheral loss 2 Leu1201Arg C = R (ND) 16/56/M AA 20/40 20/40 Central scotoma 2 Leu2027Phe C = R Abbreviations: AA, African American; C ↓ R, cone responses more reduced than rod amplitudes; C = R, cone and rod amplitudes were similarly reduced; CF, counting fingers; ERG, electroretinogram; H, Hispanic; ND, nondetectable; P, Palestinian; W, white. Login to comment