ABCMdb

PMID: 25444351

Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB
Early-onset stargardt disease: phenotypic and genotypic characteristics.
Ophthalmology. 2015 Feb;122(2):335-44. doi: 10.1016/j.ophtha.2014.08.032. Epub 2014 Oct 17., [PubMed]

Sentences

No. Mutations Sentence Comment

46 ABCA4 p.Thr983Ala Retinal imaging of patient 4 (age at onset, 6 years; best-corrected visual acuity, 0.24 logarithm of the minimum angle of resolution; Snellen 20/35; ABCA4 genotype: p.Thr983Ala and c.5461-10T>C (p.?)) Login to comment 115 ABCA4 p.Gly1961Glu ABCA4 p.Phe608Ile Fundus photographs and autofluorescence (FAF) imaging of patient 37 (age at onset, 8 years; ABCA4 genotype: p.Phe608Ile and p.Gly1961Glu) at 15 (A1,2) and 22 years (B1,2) of age, showing isolated foveal pigment alterations and a hypoautofluorescent lesion (best-corrected visual acuity [BCVA], 0.52 logarithm of the minimum angle of resolution [logMAR], Snellen 20/66). Login to comment 136 ABCA4 p.Asn96Asp ABCA4 p.Arg152Gln ABCA4 p.Arg219Thr ABCA4 p.Gly72Arg ABCA4 Mutations in Early-Onset Stargardt Patients Mutation Effect Allele References Frequency Percentage c.122G>A p.Trp41* 1 1 35 c.214G>A p.Gly72Arg 1 1 32 c.286A>G p.Asn96Asp 4 5 36 c.443-?_570&#fe;?del p.Arg149fs 1 1 This study c.455G>A p.Arg152Gln 1 1 32, 37 c.656G>C p.Arg219Thr 1 1 38 c.768G>T p.Val256Val/p.? Login to comment 137 ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Leu541Pro ABCA4 p.Cys1488Arg ABCA4 p.Arg653Cys ABCA4 p.Pro291Leu ABCA4 p.Phe608Ile ABCA4 p.Thr983Ala ABCA4 p.Thr1112Asn ABCA4 p.Trp1408Cys ABCA4 p.Glu1271Asp ABCA4 p.Cys1150Tyr 11 13 16, 23, 32, 39 c.818G>A p.Trp273* 1 1 This study c.872C>T p.Pro291Leu 1 1 34 c.1622T>C p.Leu541Pro 2 2 1, 16, 32, 40 c.1822T>A p.Phe608Ile 4 5 1, 23 c.1957C>T p.Arg653Cys 1 1 32, 41 c.2588G>C p.Gly863Ala/p.DelGly863 3 4 16, 18, 23, 32, 42 c.2919-?_3328&#fe;?del p.Ser974_Gly1110delinsCys 2 2 23 c.2947A>G p.Thr983Ala 3 4 34 c.3113C>T p.Ala1038Val 2 2 16, 31, 32, 40, 43 c.3335C>A p.Thr1112Asn 1 1 23 c.3449G>A p.Cys1150Tyr 1 1 This study c.3813G>C p.Glu1271Asp 1 1 This study c.3874C>T p.Gln1292* 1 1 34 c.4224G>T p.Trp1408Cys 1 1 This study c.4462T>C p.Cys1488Arg 1 1 1, 8, 44, 45 c.4506C>A p.Cys1502* 1 1 34 c.4539&#fe;1G>T p.? Login to comment 139 ABCA4 p.Arg1705Trp 1 1 This study c.5113C>T p.Arg1705Trp 1 1 34 c.5161_5162del p.Thr1721fs 1 1 23, 36 c.5312&#fe;1G>A p.? Login to comment 141 ABCA4 p.Ile1846Thr 19 22 16, 23, 47 c.5537T>C p.Ile1846Thr 1 1 23, 45 c.5585-10T>C p.? Login to comment 143 ABCA4 p.Gly1961Glu ABCA4 p.Arg2107His 1 1 1, 23, 32, 41, 43 c.5762_5763dup p.Ala1922fs 1 1 34 c.5882G>A p.Gly1961Glu 5 6 18, 31, 32, 44, 49 c.6320G>A p.Arg2107His 2 2 8, 31, 40, 45, 50 c.6411T>A p.Cys2137* 1 1 34 c.6543_6578del p.Leu2182_Phe2193del 1 1 1 del &#bc; deletion; dup &#bc; duplication; fs &#bc; frame shift. Login to comment