Ventricular noncompaction and distal chromosome 5q deletion

R M Pauli; S Scheib-Wixted; L Cripe; S Izumo; G S Sekhon

Ventricular noncompaction and distal chromosome 5q deletion

Am J Med Genet. 1999 Aug 6;85(4):419-23.

Authors

R M Pauli¹, S Scheib-Wixted, L Cripe, S Izumo, G S Sekhon

Affiliation

¹ Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA. pauli@waisman.wisc.edu

PMID: 10398271

Abstract

We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac specific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX.

Publication types

Case Reports

MeSH terms

Child
Chromosomes, Human, Pair 5*
Cytogenetics
Female
Gene Deletion*
Heart Defects, Congenital / genetics*
Heart Defects, Congenital / pathology
Heart Ventricles / pathology*
Homeobox Protein Nkx-2.5
Homeodomain Proteins / genetics
Humans
In Situ Hybridization, Fluorescence
Transcription Factors / genetics

Substances

Homeobox Protein Nkx-2.5
Homeodomain Proteins
NKX2-5 protein, human
Transcription Factors