Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

Nat Genet. 1997 Jul;16(3):311-5. doi: 10.1038/ng0797-311.

M Bamshad ¹, R C Lin, D J Law, W C Watkins, P A Krakowiak, M E Moore, P Franceschini, R Lala, L B Holmes, T C Gebuhr, B G Bruneau, A Schinzel, J G Seidman, C E Seidman, L B Jorde

Affiliations

Affiliation

1 Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84112, USA.

PMID: 9207801 DOI: 10.1038/ng0797-311

Abstract

Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families. Each mutation (a single nucleotide deletion and a splice-site mutation) is predicted to cause haploinsufficiency of TBX3, implying that critical levels of this transcription factor are required for morphogenesis of several organs. Limb abnormalities of ulnar-mammary syndrome involve posterior elements. Mutations in TBX5, a related and linked gene, cause anterior limb abnormalities in Holt-Oram syndrome. We suggest that during the evolution of TBX3 and TBX5 from a common ancestral gene, each has acquired specific yet complementary roles in patterning the mammalian upper limb.

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