A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.
In an inbred Iraqi Jewish family, we have studied three siblings with presenile cataract first noticed between the ages of 20 and 51 years and segregating in an autosomal recessive mode. Using microsatellite repeat markers in close proximity to 25 genes and loci previously associated with congenital cataracts in humans and mice, we identified five markers on chromosome 19q that cosegregated with the disease. Sequencing of LIM2, one of two candidate genes in this region, revealed a homozygous T-->G change resulting in a phenylalanine-to-valine substitution at position 105 of the protein. To our knowledge, this constitutes the first report, in humans, of cataract formation associated with a mutation in LIM2. Studies of late-onset single-gene cataracts may provide insight into the pathogenesis of the more common age-related cataracts.
Pras
Eran
E
Department of Ophthalmology, Sapir Medical Center, Kfar Saba; and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. epras@post.tau.ac.il
Levy-Nissenbaum
Etgar
E
Bakhan
Tangiz
T
Lahat
Hadas
H
Assia
Ehud
E
Geffen-Carmi
Noa
N
Frydman
Moshe
M
Goldman
Boleslaw
B
Pras
Elon
E
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002386:Cataract / Q000150:complications / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007493:Iraq / Q000208:ethnology; D007585:Jews / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D051379:Mice; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
D005136:Eye Proteins; C044539:LIM2 protein, human; C489025:Lim2 protein, mouse; D008562:Membrane Glycoproteins; D008565:Membrane Proteins