Identification of a HOXD13 mutation in a VACTERL patient.
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.
Garcia-Barceló
Maria-Mercè
MM
Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Wong
Kenneth Kak-yuen
KK
Lui
Vincent Chi-hang
VC
Yuan
Zhen-wei
ZW
So
Man-ting
MT
Ngan
Elly Sau-wai
ES
Miao
Xiao-ping
XP
Chung
Patrick Ho-yu
PH
Khong
Pek-lan
PL
Tam
Paul Kwong-hang
PK
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*
C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors