HOXA13

Pathology

 triphalangeal thumb-brachyectrodactyly syndrome (12382951)

 hand-foot-genital syndrome

• polyalanine repeat expansion

 HOXA genes in T-cell acute lymphoblastic leukemia (T-ALL)

• HOXA13 rearrangement and surexpression in T-cell acute lymphoblastic leukemia (T-ALL) (16804919)

See also

 polyalanine repeat expansions

References

 Su X, Drabkin H, Clappier E, Morgado E, Busson M, Romana S, Soulier J, Berger R, Bernard OA, Lavau C. Transforming potential of the T-cell acute lymphoblastic leukemia-associated homeobox genes HOXA13, TLX1, and TLX3. Genes Chromosomes Cancer. 2006 Sep;45(9):846-55. PMID: 16804919

 Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Hum Mol Genet. 2004 Nov 15;13(22):2841-51. PMID: 15385446

 Goodman FR. Limb malformations and the human HOX genes.
Am J Med Genet. 2002 Oct 15;112(3):256-65. PMID: 12357469

 Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M. A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? Hum Genet. 2002 May;110(5):488-94. PMID: 12073020

 Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mutat. 2002 May;19(5):573-4. PMID: 11968094

 Pérez-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

 Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet. 2000 Jul;67(1):197-202. PMID: 10839976

 Simpson JL. Genetics of the female reproductive ducts. Am J Med Genet. 1999 Dec 29;89(4):224-39. PMID: 10727998

0 Devriendt K, Jaeken J, Matthijs G, Van Esch H, Debeer P, Gewillig M, Fryns JP. Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. Am J Hum Genet. 1999 Jul;65(1):249-51. PMID: 10364539