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HOXD13

Monday 29 September 2003

MIM.142989

HOXD13, the homeobox-containing gene located at the most 5’ end of the HOXD cluster, plays a critical role in limb development. It has been shown that mutations in human HOXD13 can give rise to limb malformations, with variable expressivity and a wide spectrum of clinical manifestations.

Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with brachydactyly types D and E.

Pathology

- fused in the HOXD13-NUP98 fusion gene in acute myeloid leukemia

- HOXD13 germline mutations (polyalanine repeat expansion) in HOXD13 limb morphopathies

See also

- polyalanine repeat expansions

References

- Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet. 2007 Feb;80(2):361-71. PMID: 17236141

- Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, Tommerup N, Opitz JM. HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. Am J Med Genet. 2002 Jun 15;110(2):116-21. PMID: 12116248

- PĂ©rez-Cabrera A, Kofman-Alfaro S, Zenteno JC. Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome. J Orthop Res. 2002 Sep;20(5):899-901. PMID: 12382951