PMID: 25312043

Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets R, Michaelides M, Moore AT
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Ophthalmology. 2015 Feb;122(2):326-34. doi: 10.1016/j.ophtha.2014.08.012. Epub 2014 Oct 12., [PubMed]
Sentences
No. Mutations Sentence Comment
102 ABCA4 p.Tyr1770Asp
X
ABCA4 p.Tyr1770Asp 25312043:102:199
status: NEW
view ABCA4 p.Tyr1770Asp details
ABCA4 p.Ser2072Asn
X
ABCA4 p.Ser2072Asn 25312043:102:227
status: NEW
view ABCA4 p.Ser2072Asn details
ABCA4 p.Arg587Lys
X
ABCA4 p.Arg587Lys 25312043:102:121
status: NEW
view ABCA4 p.Arg587Lys details
ABCA4 p.Asp586Gly
X
ABCA4 p.Asp586Gly 25312043:102:108
status: NEW
view ABCA4 p.Asp586Gly details
 Thirteen novel definitely or highly likely disease-causing variants were identified: p.Gln8fs, p.Cys519*, p.Asp586Gly, p.Arg587Lys, p.Glu905fs, p.Tyr1027*, p.Met1066- Arg, p.Arg1097*, p.Thr1721fs, p.Tyr1770Asp, p.Ala1739dup, p.Ser2072Asn, and c.6817-2A>C (Table 4). Login to comment 103 ABCA4 p.Glu1022Lys
X
ABCA4 p.Glu1022Lys 25312043:103:40
status: NEW
view ABCA4 p.Glu1022Lys details
 Four homozygous variants (p.Glu905fs, p.Glu1022Lys, p.Tyr1027*, and c.6479&#fe;1G>A) were identified in patients from consanguineous families and the other 42 variants were detected in heterozygous state. Login to comment