Identification of a HOXD13 Mutation in a VACTERL Patient

被引：71

作者：

Garcia-Barcelo, Maria-Mercè ^{[1
]}

Wong, Kenneth Kak-yuen ^{[1
]}

Lui, Vincent Chi-hang ^{[1
]}

Yuan, Zhen-wei ^{[2
]}

So, Man-ting ^{[1
]}

Ngan, Elly Sau-wai ^{[1
]}

Miao, Xiao-ping ^{[1
]}

Chung, Patrick Ho-yu ^{[1
]}

Khong, Pek-lan ^{[3
]}

Tam, Paul Kwong-hang ^{[1
]}

机构：

[1] Univ Hong Kong, Dept Surg, Li Ka Shing Fac Med, Hong Kong, Hong Kong, Peoples R China

[2] China Med Univ, Shengjing Hosp, Dept Pediat Surg, Shenyang, Peoples R China

[3] Univ Hong Kong, Dept Radiol, Li Ka Shing Fac Med, Hong Kong, Hong Kong, Peoples R China

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 24期

关键词：

HOXD13; VACTERL; sonic hedgehog;

D O I：

10.1002/ajmg.a.32426

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：3181 / 3185

页数：5

共 23 条

[1]

Botto LD, 1997, AM J MED GENET, V71, P8, DOI 10.1002/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO

[2]

2-V

[3]

Cox PM, 1997, AM J MED GENET, V68, P86, DOI 10.1002/(SICI)1096-8628(19970110)68:1<86::AID-AJMG17>3.0.CO

[4]

2-K

[5] Breakpoints around the HOXD cluster result in various limb malformations [J].

Dlugaszewska, B ;

Silahtaroglu, A ;

Menzel, C ;

Kübart, S ;

Cohen, M ;

Mundlos, S ;

Tümer, Z ;

Kjaer, K ;

Friedrich, U ;

Ropers, HH ;

Tommerup, N ;

Neitzel, H ;

Kalscheuer, VM .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (02) :111-118

[6] DISRUPTION OF THE HOXD-13 GENE INDUCES LOCALIZED HETEROCHRONY LEADING TO MICE WITH NEOTENIC LIMBS [J].

DOLLE, P ;

DIERICH, A ;

LEMEUR, M ;

SCHIMMANG, T ;

SCHUHBAUR, B ;

CHAMBON, P ;

DUBOULE, D .

CELL, 1993, 75 (03) :431-441

[7]

DOLLIMORE D, 1993, TREATISE ANAL CHEM, V13, P1

[8] Limb malformations and the human HOX genes [J].

Goodman, FR .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 112 (03) :256-265

[9] Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome [J].

Holden, S. T. ;

Cox, J. J. ;

Kesterton, I. ;

Thomas, N. S. ;

Carr, C. ;

Woods, C. G. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (09) :750-754

[10] A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly [J].

Johnson, KR ;

Sweet, HO ;

Donahue, LR ;

Ward-Bailey, P ;

Bronson, RT ;

Davisson, MT .

HUMAN MOLECULAR GENETICS, 1998, 7 (06) :1033-1038

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