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Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb—brachyectrodactyly syndrome
Author(s) -
PérezCabrera A.,
KofmanAlfaro S.,
Zenteno J. C.
Publication year - 2002
Publication title -
journal of orthopaedic research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.041
H-Index - 155
eISSN - 1554-527X
pISSN - 0736-0266
DOI - 10.1016/s0736-0266(02)00008-6
Subject(s) - hox gene , ectrodactyly , biology , genetics , limb development , homeobox , gene , zone of polarizing activity , phenotype , transcription factor , ectodermal dysplasia , mesoderm , embryonic stem cell
The triphalangeal thumb‐brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb‐brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease. © 2002 Orthopaedic Research Society. Published by Elsevier Science Ltd. All rights reserved.