Analysis of ABCA4 variants in 150 families with Stargardt disease. Most of which were of northern or central European ancestry. For comparison,
220 racially matched individuals with no personal history
or known family history of STGD served as controls
(Anderson et al. 1995; Allikmets et al. 1997b).
PMID: 9973280
Gene: ABCA4
HGNCID: HGNC:34
GenotypingMethod: combined SSCP and heteroduplex analyses of all 50 exons of ABCA4, Sanger sequencing
Pedigree AR417: onset at 8 years
2 segregations, 2 out of 3 offspring affected by STGD, parents and grandmother unaffected
Variant: G1961E, A1038V
CAID: CA119132, CA119135)
Pedigree AR427: onset at 12 years
1 segregation, 1 out of 2 offspring affected by STGD, parents unaffected
Variant: G1961E, C75G
CAID: CA119132, CA226985
Pedigree AR370: onset at 13 years
1 segregation, 1 out of 3 offspring affected by STGD, parents and grandparents unaffected
Variant: G1961E, C1490Y
CAID: CA119132, CA227198
Pedigree AR 218: onset at 14 years
family history of AMD, was first reported by Anderson et al. [1995]
Variant: G1961E, 2160+1G>C
CAID: CA119132, CA226984
Pedigree AR 373: onset at 19 years
2 segregations, 2 out of 3 offspring affected by STGD, parents and grandparents unaffected
Variant: G1961E, 4253+5G>T
CAID: CA119132, CA227174
Pedigree AR 274: onset at 20 years
1 segregation, 1 out of 4 siblings affected by STGD, parents and grandparents unaffected
Variant: G1961E, A1038V
CAID: CA119132, CA119135