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A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.


ABSTRACT: Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment. We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance. We map the ectopia lentis locus in this family to the pericentromeric region on chromosome 1 (1p13.2-q21.1). The linkage region contains well more than 60 genes. Mutation screening of four candidate genes revealed a homozygous nonsense mutation in exon 11 of ADAMTSL4 (p.Y595X; c.1785T-->G) in all affected individuals that is absent in 380 control chromosomes. The mutation would result in a truncated protein of half the original length, if the mRNA escapes nonsense-mediated decay. We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers.

SUBMITTER: Ahram D 

PROVIDER: S-EPMC2668005 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature

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A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

Ahram Dina D   Sato T Shawn TS   Kohilan Abdulghani A   Tayeh Marwan M   Chen Shan S   Leal Suzanne S   Al-Salem Mahmoud M   El-Shanti Hatem H  

American journal of human genetics 20090205 2


Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment. We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance. We map the ec  ...[more]

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