Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

被引：256

作者：

Wakamatsu, N ^{[1
]}

Yamada, Y

Yamada, K

Ono, T

Nomura, N

Taniguchi, H

Kitoh, H

Mutoh, N

Yamanaka, T

Mushiake, K

Kato, K

Sonta, S

Nagaya, M

机构：

[1] Aichi Human Serv Ctr, Cent Hosp, Dept Genet, Inst Dev Res, Aichi, Japan

[2] Aichi Human Serv Ctr, Cent Hosp, Dept Biochem, Inst Dev Res, Aichi, Japan

[3] Aichi Human Serv Ctr, Cent Hosp, Dept Pediat, Aichi, Japan

[4] Aichi Human Serv Ctr, Cent Hosp, Dept Pediat Surg, Aichi, Japan

[5] Toki Gen Hosp, Dept Pediat, Gifu, Japan

来源：

NATURE GENETICS | 2001年 / 27卷 / 04期

关键词：

D O I：

10.1038/86860

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct facial features(1-3), but the gene mutated in this condition has not yet been identified. Here we report that mutations in SIP1, encoding Smad interacting protein-1, cause disease in a series of cases. SIP1 is located in the deleted segment at 2q22 from a patient with a de novo t(2;13)(q22;q22) translocation, SIP1 seems to have crucial roles in normal embryonic neural and neural crest development.

引用

页码：369 / 370

页数：2

共 15 条

[1]

Brooks AS, 1999, J MED GENET, V36, P485

[2] XSIP1, a member of two-handed zinc finger proteins, induced anterior neural markers in Xenopus laevis animal cap [J].

Eisaki, A ;

Kuroda, H ;

Fukui, A ;

Asashima, M .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2000, 271 (01) :151-157

[3] Goldberg-Shprintzen syndrome: report of a new family and review of the literature [J].

Fryer, AE .

CLINICAL DYSMORPHOLOGY, 1998, 7 (02) :97-101

[4]

GOLDBERG RB, 1981, J CRAN GENET DEV BIO, V1, P185

[5] THE SYNDROME OF HIRSCHSPRUNG DISEASE, MICROCEPHALY, UNUSUAL FACE, AND MENTAL-RETARDATION [J].

HALAL, F ;

MOREL, J .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (01) :106-108

[6] A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction [J].

Hofstra, RMW ;

Valdenaire, O ;

Arch, E ;

Osinga, J ;

Kroes, H ;

Löffler, BM ;

Hamosh, A ;

Meijers, C ;

Buys, CHCM .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) :304-308

[7] UNKNOWN SYNDROME - HIRSCHSPRUNGS-DISEASE, MICROCEPHALY, AND IRIS COLOBOMA - A NEW SYNDROME OF DEFECTIVE NEURONAL MIGRATION [J].

HURST, JA ;

MARKIEWICZ, M ;

KUMAR, D ;

BRETT, EM .

JOURNAL OF MEDICAL GENETICS, 1988, 25 (07) :494-497

[8] FAMILIAL PATTERNS OF CENTRAL NERVOUS-SYSTEM DYSFUNCTION, GROWTH DEFICIENCY, FACIAL CLEFTS AND CONGENITAL MEGACOLON - A SPECIFIC DISORDER [J].

KUMASAKA, K ;

CLARREN, SK .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 31 (02) :465-466

[9]

Lurie I. W., 1994, Genetic Counseling, V5, P11

[10] Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features:: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 [J].

Mowat, DR ;

Croaker, GDH ;

Cass, DT ;

Kerr, BA ;

Chaitow, J ;

Adís, LC ;

Chia, NL ;

Wilson, MJ .

JOURNAL OF MEDICAL GENETICS, 1998, 35 (08) :617-623

← 1 2 →