Maria-Mercè Garcia-Barceló and Kenneth Kak-yuen Wong contributed equally to this work.
Article first published online: 12 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3181–3185, 15 December 2008
How to Cite
Garcia-Barceló, M.-M., Wong, K. K.-y., Lui, V. C.-h., Yuan, Z.-w., So, M.-t., Ngan, E. S.-w., Miao, X.-p., Chung, P. H.-y., Khong, P.-l. and Tam, P. K.-h. (2008), Identification of a HOXD13 mutation in a VACTERL patient. Am. J. Med. Genet., 146A: 3181–3185. doi: 10.1002/ajmg.a.32426
How to cite this article: Garcia-Barceló MM, Wong KK, Lui VC, Yuan Z, So M, Ngan ES, Miao X, Chung PH, Khong P, Tam PK. 2008. Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet Part A 146A:3181–3185.
- Issue published online: 21 NOV 2008
- Article first published online: 12 NOV 2008
- Manuscript Accepted: 9 MAY 2008
- Manuscript Received: 22 MAR 2008
- Hong Kong Research Grants Council. Grant Number: HKU 7509/05M
- sonic hedgehog
VACTERL acronym is assigned to a non-random association of malformations in humans with poorly known etiology. It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, a female patient with VACTERL association with a 21 base-pair deletion in the exon 1 triplet repeats of HOXD13, a sonic hedgehog (SHH) downstream target. Our data provide the first piece of clinical evidence of the implication of the SHH pathway in VACTERL. Moreover, HOXD13 may not only be implicated in limb malformations but also in the development of gut and genitourinary structures, as predicted from the mouse models. © 2008 Wiley-Liss, Inc.