Identification of a HOXD13 Mutation in a VACTERL Patient
Identification of a HOXD13 Mutation in a VACTERL Patient
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DOI：
10.1002/ajmg.a.32426
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发表时间：
2008-12-15
影响因子：
2
通讯作者：
Tam, Paul Kwong-hang
中科院分区：
文献类型：
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作者：
Garcia-Barcelo, Maria-Mercè;Wong, Kenneth Kak-yuen;Tam, Paul Kwong-hang
VACTERL的首字母缩略词是指人类畸形的非随机关联，其病因尚不清楚。它由椎体缺损(V)、肛门闭锁(A)、心脏异常(C)、气管食管瘘伴食管闭锁（TE）、肾脏发育不良(R)和肢体病变(L)组成。在这里，我们首次报道了一名女性患者，其VACTERL与音猬（SHH）下游靶标HOXD13的外显子1三联体重复序列中21个碱基对缺失有关。我们的数据为SHH通路在VACTERL中的作用提供了第一个临床证据。此外，HOXD13可能不仅与肢体畸形有关，还与肠道和泌尿生殖系统结构的发育有关，正如从小鼠模型中预测的那样。(C) 2008 Wiley-Liss, Inc。
VACTERL acronym is assigned to anon-random association of malformations in humans with poorly known etiology. It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), trachcoesophageal 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. (C) 2008 Wiley-Liss, Inc.