Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

被引：442

作者：

Niihori, T

Aoki, Y ^{[1
]}

Narumi, Y

Neri, G

Cavé, H

Verloes, A

Okamoto, N

Hennekam, RCM

Gillessen-Kaesbach, G

Wieczorek, D

Kavamura, MI

Kurosawa, K

Ohashi, H

Wilson, L

Heron, D

Bonneau, D

Corona, G

Kaname, T

Naritomi, K

Baumann, C

Matsumoto, N

Kato, K

Kure, S

Matsubara, Y

机构：

[1] Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi, Japan

[2] Catholic Univ, Ist Genet Med, Rome, Italy

[3] Hop Robert Debre, APHP, Dept Genet, Paris, France

[4] Osaka Med Ctr, Dept Planning & Res, Osaka, Japan

[5] Res Inst Maternal & Child Hlth, Osaka, Japan

[6] Inst Child Hlth, Clin & Mol Genet Unit, London, England

[7] Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands

[8] Univ Essen Gesamthsch, Inst Human Genet, Essen, Germany

[9] UNIFESP, Ctr Med Genet, Sao Paulo, Brazil

[10] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan

[11] Saitama Childrens Med Ctr, Div Med Genet, Saitama, Japan

[12] Great Ormond St Hosp Sick Children, London, England

[13] Pitie Salpetriere Univ Hosp, Dept Genet, Paris, France

[14] Univ Hosp, Dept Genet, Angers, France

[15] Azienda Osped Univ G Martino, Dipartimento Sci Pediat Med & Chirurg, Unita Operat Complessa Patol Neonatale & Terapia, Messina, Italy

[16] Univ Ryukyus, Sch Med, Dept Med Genet, Okinawa, Japan

[17] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan

[18] Tohoku Univ, Comprehens Res & Educ Ctr Planning Drug Dev & Cli, Cent COE Program 21, Sendai, Miyagi, Japan

来源：

NATURE GENETICS | 2006年 / 38卷 / 03期

关键词：

D O I：

10.1038/ng1749

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS, respectively. In 43 individuals with CFC, we identified two heterozygous KRAS mutations in three individuals and eight BRAF mutations in 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders.

引用

页码：294 / 296

页数：3

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