Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.
Leber's congenital amaurosis (LCA) is the most common cause of inherited childhood blindness and is characterised by severe retinal degeneration at or shortly after birth. We have identified a new locus, LCA9, on chromosome 1p36, at which the disease segregates in a single consanguineous Pakistani family. Following a whole genome linkage search, an autozygous region of 10 cM was identified between the markers D1S1612 and D1S228. Multipoint linkage analysis generated a lod score of 4.4, strongly supporting linkage to this region. The critical disease interval contains at least 5.7 Mb of DNA and around 50 distinct genes. One of these, retinoid binding protein 7 (RBP7), was screened for mutations in the family, but none was found.
Molecular Medicine Unit, University of Leeds, Leeds, UK.
T Jeffrey
TJ
Keen
Moin D
MD
Mohamed
Martin
M
McKibbin
Yasmin
Y
Rashid
Hussain
H
Jafri
Irene H
IH
Maumenee
Chris F
CF
Inglehearn
D000293:Adolescent; D000328:Adult; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree
D005819:Genetic Markers