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Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.
Am J Med Genet A. 2014 May; 164A(5):1304-9.AJ

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.

Authors+Show Affiliations

Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24664963

Citation

Bogarapu, Soujanya, et al. "Phenotype of a Patient With Contiguous Deletion of TBX5 and TBX3: Expanding the Disease Spectrum." American Journal of Medical Genetics. Part A, vol. 164A, no. 5, 2014, pp. 1304-9.
Bogarapu S, Bleyl SB, Calhoun A, et al. Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum. Am J Med Genet A. 2014;164A(5):1304-9.
Bogarapu, S., Bleyl, S. B., Calhoun, A., Viskochil, D., Saarel, E. V., Everitt, M. D., & Frank, D. U. (2014). Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum. American Journal of Medical Genetics. Part A, 164A(5), 1304-9. https://doi.org/10.1002/ajmg.a.36447
Bogarapu S, et al. Phenotype of a Patient With Contiguous Deletion of TBX5 and TBX3: Expanding the Disease Spectrum. Am J Med Genet A. 2014;164A(5):1304-9. PubMed PMID: 24664963.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum. AU - Bogarapu,Soujanya, AU - Bleyl,Steven B, AU - Calhoun,Amy, AU - Viskochil,David, AU - Saarel,Elizabeth V, AU - Everitt,Melanie D, AU - Frank,Deborah U, Y1 - 2014/03/24/ PY - 2013/08/20/received PY - 2013/12/30/accepted PY - 2014/3/26/entrez PY - 2014/3/26/pubmed PY - 2015/8/20/medline KW - Holt-Oram syndrome KW - TBX3 KW - TBX5 KW - arrhythmia KW - cardiac development KW - conduction system KW - congenital heart disease KW - ulnar-mammary syndrome SP - 1304 EP - 9 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 164A IS - 5 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/24664963/Phenotype_of_a_patient_with_contiguous_deletion_of_TBX5_and_TBX3:_expanding_the_disease_spectrum_ L2 - https://doi.org/10.1002/ajmg.a.36447 DB - PRIME DP - Unbound Medicine ER -