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

Dina Ahram; T Shawn Sato; Abdulghani Kohilan; Marwan Tayeh; Shan Chen; Suzanne Leal; Mahmoud Al-Salem; Hatem El-Shanti

doi:10.1016/j.ajhg.2009.01.007

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

Journal article

Open access

Peer reviewed

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

Dina Ahram, T Shawn Sato, Abdulghani Kohilan, Marwan Tayeh, Shan Chen, Suzanne Leal, Mahmoud Al-Salem and Hatem El-Shanti

American journal of human genetics, Vol.84(2), pp.274-278

02/2009

DOI: 10.1016/j.ajhg.2009.01.007

PMCID: PMC2668005

PMID: 19200529

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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.

Thrombospondins - genetics

Humans

Male

Genetic Markers

Genes, Recessive

Lod Score

Homozygote

Pedigree

Base Sequence

ADAMTS Proteins

Female

Consanguinity

Polymorphism, Single Nucleotide

Mutation

Jordan

Ectopia Lentis - genetics

Siblings

Details

Title: Subtitle: A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis
Creators: Dina Ahram - Shafallah Medical Genetics Center, Doha, Qatar
T Shawn Sato
Abdulghani Kohilan
Marwan Tayeh
Shan Chen
Suzanne Leal
Mahmoud Al-Salem
Hatem El-Shanti
Resource Type: Journal article
Publication Details: American journal of human genetics, Vol.84(2), pp.274-278
DOI: 10.1016/j.ajhg.2009.01.007
PMID: 19200529
PMCID: PMC2668005
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: United States
Language: English
Date published: 02/2009
Academic Unit: Radiology; Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9983905529202771

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