Identification of a HOXD13 mutation in a VACTERL patient

作者：Maria‐Mercè Garcia‐Barceló, Kenneth Kak‐Yuen Wong, Vincent Chi‐Hang Lui, Zhenwei Yuan, Man‐Ting So, Esw Ngan, Xiaoping Miao, Bhy Chung, Pek‐Lan Khong, Paul Kwong-Hang Tam · 发表于：American Journal of Medical Genetics Part A · 年份：2008 · DOI：10.1002/ajmg.a.32426 · 被引用次数：92 · 研究领域：Esophageal and GI Pathology、Hedgehog Signaling Pathway Studies、Congenital Diaphragmatic Hernia Studies

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.