Source:http://linkedlifedata.com/resource/pubmed/id/20617341
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
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| pubmed:dateCreated |
2010-9-15
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| pubmed:abstractText |
Microspherophakia is an autosomal-recessive congenital disorder characterized by small spherical lens. It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-metaphyseal dysplasia. The purpose of this study was to map and identify the gene for isolated microspherophakia in two consanguineous Indian families. Using a whole-genome linkage scan in one family, we identified a likely locus for microspherophakia (MSP1) on chromosome 14q24.1-q32.12 between markers D14S588 and D14S1050 in a physical distance of 22.76 Mb. The maximum multi-point lod score was 2.91 between markers D14S1020 and D14S606. The MSP1 candidate region harbors 110 reference genes. DNA sequence analysis of one of the genes, LTBP2, detected a homozygous duplication (insertion) mutation, c.5446dupC, in the last exon (exon 36) in affected family members. This homozygous mutation is predicted to elongate the LTBP2 protein by replacing the last 6 amino acids with 27 novel amino acids. Microspherophakia in the second family did not map to this locus, suggesting genetic heterogeneity. The present study suggests a role for LTBP2 in the structural stability of ciliary zonules, and growth and development of lens.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Oct
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| pubmed:issn |
1432-1203
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
128
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
365-71
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| pubmed:meshHeading |
pubmed-meshheading:20617341-Amino Acid Sequence,
pubmed-meshheading:20617341-Base Sequence,
pubmed-meshheading:20617341-Chromosome Mapping,
pubmed-meshheading:20617341-Chromosomes, Human, Pair 14,
pubmed-meshheading:20617341-Consanguinity,
pubmed-meshheading:20617341-DNA Mutational Analysis,
pubmed-meshheading:20617341-Exons,
pubmed-meshheading:20617341-Eye Abnormalities,
pubmed-meshheading:20617341-Family Health,
pubmed-meshheading:20617341-Female,
pubmed-meshheading:20617341-Genetic Loci,
pubmed-meshheading:20617341-Genetic Predisposition to Disease,
pubmed-meshheading:20617341-Genome-Wide Association Study,
pubmed-meshheading:20617341-Homozygote,
pubmed-meshheading:20617341-Humans,
pubmed-meshheading:20617341-India,
pubmed-meshheading:20617341-Latent TGF-beta Binding Proteins,
pubmed-meshheading:20617341-Lens, Crystalline,
pubmed-meshheading:20617341-Male,
pubmed-meshheading:20617341-Molecular Sequence Data,
pubmed-meshheading:20617341-Mutation,
pubmed-meshheading:20617341-Pedigree
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| pubmed:year |
2010
|
| pubmed:articleTitle |
A homozygous mutation in LTBP2 causes isolated microspherophakia.
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| pubmed:affiliation |
Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India. karun@mrdg.iisc.ernet.in
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|