A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

Eran Pras, Etgar Levy-Nissenbaum, Tangiz Bakhan, Hadas Lahat, Ehud Assia, Noa Geffen-Carmi, Moshe Frydman, Boleslaw Goldman, Elon Pras

Research output: Contribution to journalArticlepeer-review

106 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)1363-1367
Number of pages5
JournalAmerican Journal of Human Genetics
Volume70
Issue number5
DOIs
StatePublished - 2002
Externally publishedYes

Funding

FundersFunder number
Claire and Amedee Martier Institute for the Study of Blindness
Sackler Faculty of Medicine, Tel Aviv University
Visual Disorders

    Fingerprint

    Dive into the research topics of 'A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family'. Together they form a unique fingerprint.

    Cite this