Document Detail


Posterior polar cataract: genetic analysis of a large family.
MedLine Citation:
PMID:  16272057     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital cataracts are clinically and genetically heterogeneous. Loci for autosomal dominant posterior polar cataracts have been mapped to chromosomes 1p36, 11q22-q22.3, 16q22, and 20p12-q12. We investigated a large four-generation family with 20 individuals affected with congenital posterior polar cataracts. After exclusion of known loci for posterior polar cataracts, a genome-wide screen was conducted. In this family, we mapped dominant congenital posterior polar cataracts to chromosome 10q24. On haplotype analysis, we identified an 11-cM interval between loci D10S1680 and D10S467, which included the PITX3 gene. On sequencing the coding region of PITX3, we found a 17-base-pair duplication in exon 4. Although the same genotype was described in a family with ASMD and cataracts, the common phenotype of this mutation is probably posterior polar cataract; a modifier gene is presumed to cause anterior segment abnormalities in the previously described patients. The same mutation was recently identified in four families with congenital cataracts. This study provides further evidence of genetic heterogeneity of autosomal dominant posterior polar cataract.
Authors:
Simone Finzi; Yingying Li; Thomas N Mitchell; Arman Farr; Irene H Maumenee; Juliana M F Sallum; Olof Sundin
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  26     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2005 Sep 
Date Detail:
Created Date:  2005-11-07     Completed Date:  2005-11-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  125-30     Citation Subset:  IM    
Affiliation:
The Johns Hopkins Service for Hereditary Eye Diseases, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Base Sequence
Cataract / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 10 / genetics*
Exons / genetics
Female
Gene Duplication*
Genetic Heterogeneity
Haplotypes
Homeodomain Proteins / genetics*
Humans
Linkage (Genetics)
Male
Molecular Sequence Data
Pedigree
Phenotype
Polymerase Chain Reaction
Transcription Factors / genetics*
Chemical
Reg. No./Substance:
0/Homeodomain Proteins; 0/Transcription Factors; 0/homeobox protein PITX3

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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