Identification of a HOXD13 mutation in a VACTERL patient

Authors

  • Maria-Mercè Garcia-Barceló,

    1. Departments of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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  • Kenneth Kak-yuen Wong,

    Corresponding author
    1. Departments of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
    • Department of Surgery, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong.
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  • Vincent Chi-hang Lui,

    1. Departments of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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  • Zhen-wei Yuan,

    1. Department of Paediatric Surgery, Shengjing Hospital, China Medical University, Shenyang, China
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  • Man-ting So,

    1. Departments of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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  • Elly Sau-wai Ngan,

    1. Departments of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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  • Xiao-ping Miao,

    1. Departments of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
    Current affiliation:
    1. Department of Surgery, Shenzhen Children's Hospital, Shenzhen, China.
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  • Patrick Ho-yu Chung,

    1. Departments of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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  • Pek-lan Khong,

    1. Departments of Radiology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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  • Paul Kwong-hang Tam

    Corresponding author
    1. Departments of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
    • Department of Surgery, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong.
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  • Maria-Mercè Garcia-Barceló and Kenneth Kak-yuen Wong contributed equally to this work.

  • 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.

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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