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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2009-2-13
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pubmed:abstractText |
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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-10604300,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-10802644,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-11334709,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-12525539,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-12706885,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-14598350,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-14718307,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-15368195,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-1542340,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-15486828,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-15554875,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-16195711,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-16935236,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-1716076,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-1776417,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-18079676,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-2377351,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-310371,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-3491351,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-3878400,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-6331704,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-6682838,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-7696232,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-8317490,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19200529-8334934
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1537-6605
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
84
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
274-8
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pubmed:dateRevised |
2011-7-28
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pubmed:meshHeading |
pubmed-meshheading:19200529-Base Sequence,
pubmed-meshheading:19200529-Consanguinity,
pubmed-meshheading:19200529-Ectopia Lentis,
pubmed-meshheading:19200529-Female,
pubmed-meshheading:19200529-Genes, Recessive,
pubmed-meshheading:19200529-Genetic Markers,
pubmed-meshheading:19200529-Homozygote,
pubmed-meshheading:19200529-Humans,
pubmed-meshheading:19200529-Jordan,
pubmed-meshheading:19200529-Lod Score,
pubmed-meshheading:19200529-Male,
pubmed-meshheading:19200529-Mutation,
pubmed-meshheading:19200529-Pedigree,
pubmed-meshheading:19200529-Polymorphism, Single Nucleotide,
pubmed-meshheading:19200529-Siblings,
pubmed-meshheading:19200529-Thrombospondins
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pubmed:year |
2009
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pubmed:articleTitle |
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.
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pubmed:affiliation |
Shafallah Medical Genetics Center, Doha, Qatar.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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