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

HOXD10 Mutations Associated With Congenital Vertical Talus and Pes Cavus Claw-Toe Limb Abnormalities
Chapter:
HOXD10 Mutations Associated With Congenital Vertical Talus and Pes Cavus Claw-Toe Limb Abnormalities
Author(s):

Anthony E. Shrimpton

and E. Mark Levinsohn

DOI:
10.1093/med/9780199934522.003.0092
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date: 28 February 2021

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.

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