title: Identification of a HOXD13 mutation in a VACTERL patient.
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.
authors.affiliation: Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
authors.forename: Maria-Mercè
authors.initials: MM
authors.lastname: Garcia-Barceló
authors.forename: Kenneth Kak-yuen
authors.initials: KK
authors.lastname: Wong
authors.forename: Vincent Chi-hang
authors.initials: VC
authors.lastname: Lui
authors.forename: Zhen-wei
authors.initials: ZW
authors.lastname: Yuan
authors.forename: Man-ting
authors.initials: MT
authors.lastname: So
authors.forename: Elly Sau-wai
authors.initials: ES
authors.lastname: Ngan
authors.forename: Xiao-ping
authors.initials: XP
authors.lastname: Miao
authors.forename: Patrick Ho-yu
authors.initials: PH
authors.lastname: Chung
authors.forename: Pek-lan
authors.initials: PL
authors.lastname: Khong
authors.forename: Paul Kwong-hang
authors.initials: PK
authors.lastname: Tam
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D000595:Amino Acid Sequence; D001006:Anus, Imperforate / Q000150:complications / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004933:Esophageal Atresia / Q000150:complications / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D014138:Tracheoesophageal Fistula / Q000150:complications / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors