Document Detail

A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12.
MedLine Citation:
PMID:  7847375     Owner:  NLM     Status:  MEDLINE    
Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital heart defect that, without surgical correction, has a high mortality rate in the first year of life. It usually occurs without a family history and has a low recurrence risk. However, we recently reported a large Utah-Idaho family in which TAPVR segregates as an autosomal dominant trait with decreased penetrance. Linkage mapping with highly polymorphic microsatellite markers localizes the disease locus in this pedigree to the centromeric region of chromosome 4 (maximum lod = 6.51 at theta = .00). Apparent genetic anticipation in the pedigree prompted a search for expanded trinucleotide repeats by using repeat expansion detection. We have found no evidence for a trinucleotide repeat expansion that segregates with TAPVR. A vascular endothelial growth-factor receptor that is thought to have a role in vasculogenesis maps near the pericentric region of chromosome 4 and is a candidate gene for both familial and sporadic cases of TAPVR.
S Bleyl; L Nelson; S J Odelberg; H D Ruttenberg; B Otterud; M Leppert; K Ward
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  56     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1995 Feb 
Date Detail:
Created Date:  1995-03-09     Completed Date:  1995-03-09     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  408-15     Citation Subset:  IM    
Department of Obstetrics and Gynecology, University of Utah School of Medicine.
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MeSH Terms
Chromosome Mapping / methods
Chromosomes, Human, Pair 4*
Heart Defects, Congenital / epidemiology,  genetics*
Idaho / epidemiology
Linkage (Genetics)
Lod Score
Pulmonary Veins / abnormalities*
Recombination, Genetic
Utah / epidemiology

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

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