<i>HOXD10</i> Mutations Associated With Congenital Vertical Talus and <i>Pes Cavus</i> Claw-Toe Limb Abnormalities

Anthony E. Shrimpton and E. Mark Levinsohn

in Epstein's Inborn Errors of Development

Third edition

Published on behalf of Oxford University Press

Published in print June 2016 | ISBN: 9780199934522
Published online July 2016 | e-ISBN: 9780190213534 | DOI:

Series: Oxford Monographs on Medical Genetics

HOXD10 Mutations Associated With Congenital Vertical Talus and Pes Cavus Claw-Toe Limb Abnormalities

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Congenital vertical talus (CVT), also known as “rocker bottom foot” deformity, is a dislocation of the talonavicular joint, with rigid dorsal dislocation of the navicular over the neck of the talus. This dislocation results in a characteristic radiographic vertical orientation of the talus. This condition is usually associated with multiple other congenital deformities (e.g. myelomingocoele, neuromuscular syndromes and aneuploidies) and only rarely as an isolated deformity (Hamanishi, 1984). An identical recurrent missense mutation (M319K;956T>A) in the HOXD10 transcription factor gene, is the only mutation so far identified in autosomal dominant isolated congenital vertical talus families. In one family it had variable expression, manifesting, in a minority of carriers, in a pes cavus claw toe appearance that resembled a Charcot-Marie-Tooth (CMT)-like disorder. The finding of M319K in two isolated CVT families implies a specific dominant gain of function disease mechanism. To date, no HOXD10 mutations have been identified in non-familial isolated CVT cases.

Chapter.  5358 words.  Illustrated.

Subjects: Clinical Genetics

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