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Identification of a HOXD13 mutation in a VACTERL patient

✍ Scribed by Maria-Mercè Garcia-Barceló; Kenneth Kak-yuen Wong; Vincent Chi-hang Lui; Zhen-wei Yuan; Man-ting So; Elly Sau-wai Ngan; Xiao-ping Miao; Patrick Ho-yu Chung; Pek-lan Khong; Paul Kwong-hang Tam

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
314 KB
Volume
146A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

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.

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