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PMID: 7847375 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12.

American journal of human genetics ·Vol. 56 ·No. 2 ·1995-02-00 ·Pages 408-15

Bleyl S, Nelson L, Odelberg SJ, Ruttenberg HD, Otterud B, Leppert M, Ward K

Abstract

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.

Related Genes
TAPVR-1
MeSH Terms
Chromosome Mapping/methods Chromosomes, Human, Pair 4 Family Female Genetic Linkage Genotype Heart Defects, Congenital/epidemiology,genetics Humans Idaho/epidemiology Lod Score Male Pedigree Pulmonary Veins/abnormalities Recombination, Genetic Utah/epidemiology
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Bleyl S
Department of Obstetrics and Gynecology, University of Utah School of Medicine.
Nelson L
Odelberg S J
Ruttenberg H D
Otterud B
Leppert M
Ward K
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1995-02-00
Pages
408-15
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1801122
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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