Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum

Soujanya Bogarapu; Steven B Bleyl; Amy Calhoun; David Viskochil; Elizabeth V Saarel; Melanie D Everitt; Deborah U Frank

doi:10.1002/ajmg.a.36447

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Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum

Journal article

Peer reviewed

Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum

Soujanya Bogarapu, Steven B Bleyl, Amy Calhoun, David Viskochil, Elizabeth V Saarel, Melanie D Everitt and Deborah U Frank

American journal of medical genetics. Part A, Vol.164A(5), pp.1304-1309

05/2014

DOI: 10.1002/ajmg.a.36447

PMID: 24664963

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Abstract

The important roles that T-box genes play in the morphogenesis of the heart and its conduction system has long been established, and a number of disorders are linked to mutations in these T-box genes. Holt-Oram syndrome (HOS), the classic heart and hand syndrome, is clinically typified by radial ray upper limb abnormalities and cardiac malformations, and is caused by mutations involving TBX5. Another member of the T-box gene family, TBX3, is found in close proximity to TBX5 on chromosome 12q24. Mutations in TBX3 cause ulnar-mammary syndrome (UMS), which is distinguished by upper limb malformations affecting the ulnar ray, apocrine, and mammary gland hypoplasia, and genital defects. While disorders involving isolated mutations of TBX5 and TBX3 have been well described, contiguous deletions of these T-box genes remain exceptional. We report on a patient with features of both HOS and UMS consisting of bilateral symmetric limb malformations, congenital cardiac defects, and rapidly progressive cardiac conduction disease.

Sequence Deletion

Genetic Association Studies

Humans

Child, Preschool

Ulna - abnormalities

Infant

Male

Breast Diseases

Lower Extremity Deformities, Congenital

T-Box Domain Proteins - genetics

Phenotype

Comparative Genomic Hybridization

Heart Septal Defects, Atrial

Heart Defects, Congenital

Upper Extremity Deformities, Congenital

Abnormalities, Multiple - diagnosis

Electrocardiography

Abnormalities, Multiple - genetics

Details

Title: Subtitle: Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum
Creators: Soujanya Bogarapu - Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah
Steven B Bleyl
Amy Calhoun
David Viskochil
Elizabeth V Saarel
Melanie D Everitt
Deborah U Frank
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.164A(5), pp.1304-1309
DOI: 10.1002/ajmg.a.36447
PMID: 24664963
ISSN: 1552-4825
eISSN: 1552-4833
Language: English
Date published: 05/2014
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984093326502771

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