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Holt-Oram syndrome

Definition:

Holt-Oram syndrome (HOS) is an autosomal-dominant disorder characterized by bilateral forelimb anomalies and congenital heart diseases. All patients with HOS have abnormal carpal bones and about 85% to 95% develop cardiac malformation including atrial septal defect and ventricular septal defect. The disease is caused by mutations of the T-box transcription factor TBX5.

References:

[1]. Alessandro D Mori, et al. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol. 2004 May;19(3):211-5. [Content Brief]

[2]. Elizabeth A Packham, et al. T-box genes in human disorders. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R37-44. [Content Brief]

[3]. Taosheng Huang, et al. Current advances in Holt-Oram syndrome. Curr Opin Pediatr. 2002 Dec;14(6):691-5. [Content Brief]

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