Gene: [01p13/ABCR] ABC transporter, retina-specific; Stargardt disease 1 (fundus flavimaculatus, autosomal recessive; MIM:248200); macular dystrophy with flecks, type 1 (MIM:248200); age-related macular degeneration 1 (ARMD1; AMD; senile macular degeneration; MIM:153800); retinitis pigmentosa 19 (autosomal recessive; MIM:601718); [STGD1 RP19 ]
|
LIN |
Martinez-Mir-1997 demonstrated linkage (maximum lod = 3.64 at theta = 0.0) with marker D1S188 located at Chr 1p21-13, the same region as Stargardt disease." |
|
MUT |
Allikmets-1997a,b showed that ABCR gene is mutated in recessive Stargardt macular dystrophy and age-related macular degeneration. Martinez-Mir-1998 showed that retinitis pigmentosa is caused by a homozygous mutation in the ABCR gene." |
|
PAT |
Martinez-Mir-1997 described a consanguineous Spanish family in which 6 of 7 sibs were affected. The parents, who were related as second cousins, were unaffected. The mean age of onset was 8 years. Night blindness was followed by a decrease in visual acuity, starting at 14 years of age. Fundus examination showed papillary pallor, attenuated vessels, peripheral scattered pigmentation, bone spicule-like pigmentation reaching some areas of the macula, and severe atrophy of the retinal pigment epithelium." |
|
REL |
GEM:13q34/STGD2; 06q1/STGD3. |
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REF |
MUT,PAT "Allikmets R &: Nature Genet, 15, N3, 236-246, 1997a MUT,PAT "Allikmets R &: Science, 277, N5333, 1805-1807, 1997b POP,PAT,FOG "Ayuso C &: Clin Genet, 48, N3, 120-122, 1995 LIN,LOC "Gerber S &: AJHG, 56, 396-399, 1995 LIN,LOC "Kaplan J &: Nature Genet, 5, N3, 308-311, 1993 MUT,PAT "Martinez-Mir A &: Nature Genet, 18, N1, 11-12, 1998 PAT,LOC,LIN,FOG "Martinez-Mir A &: Genomics, 40, N1, 142-146, 1997 REV,PAT "Weleber RG: Arch Ophthal, 112, N6, 752-754, 1994 |
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KEY |
nucm, trp, eye |
|
CLA |
coding, basic |
|
LOC |
01 p13 |
|
MIM |
MIM: 601691 |
|
SYN |
STGD1 RP19 |
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