Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

被引：215

作者：

Alders, Marielle ^{[2
]}

Hogan, Benjamin M. ^{[3
]}

Gjini, Evisa ^{[3
]}

Salehi, Faranak ^{[2
]}

Al-Gazali, Lihadh ^{[5
]}

Hennekam, Eric A. ^{[4
]}

Holmberg, Eva E. ^{[6
]}

Mannens, Marcel M. A. M. ^{[2
]}

Mulder, Margot F. ^{[7
]}

Offerhaus, G. Johan A. ^{[8
,9
]}

Prescott, Trine E. ^{[6
]}

Schroor, Eelco J. ^{[10
]}

Verheij, Joke B. G. M. ^{[11
]}

Witte, Merlijn ^{[3
]}

Zwijnenburg, Petra J. ^{[12
,14
]}

Vikkula, Mikka ^{[13
]}

Schulte-Merker, Stefan ^{[3
]}

Hennekam, Raoul C. ^{[1
,14
]}

机构：

[1] UCL, Great Ormond St Hosp Children, Inst Child Hlth, Clin & Mol Genet Unit, London, England

[2] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[3] Koninklijke Nederlandse Akad Wetenschappen, Hubrecht Inst, Utrecht, Netherlands

[4] Univ Med Ctr Utrecht, Dept Clin Genet, Utrecht, Netherlands

[5] United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Paediat & Pathol, Al Ain, U Arab Emirates

[6] Univ Oslo, Rikshosp, Oslo Univ Hosp, Dept Med Genet, N-0027 Oslo, Norway

[7] Free Univ Amsterdam, Med Ctr, Dept Pediat, Amsterdam, Netherlands

[8] Univ Med Ctr Utrecht, Dept Pathol, Utrecht, Netherlands

[9] Univ Amsterdam, Acad Med Ctr, Dept Pathol, NL-1105 AZ Amsterdam, Netherlands

[10] Isala Clin, Dept Pediat Amalia, Zwolle, Netherlands

[11] Univ Groningen, Univ Med Ctr Groningen, Dept Clin Genet, NL-9713 AV Groningen, Netherlands

[12] Free Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[13] Catholic Univ Louvain, de Duve Inst, Lab Human Mol Genet, B-1200 Brussels, Belgium

[14] Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands

来源：

NATURE GENETICS | 2009年 / 41卷 / 12期

基金：

英国医学研究理事会;

关键词：

HEREDITARY LYMPHEDEMA; TRANSCRIPTION FACTOR; HENNEKAM-SYNDROME; SYSTEM; LYMPHANGIECTASIA;

D O I：

10.1038/ng.484

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.

引用

页码：1272 / 1274

页数：3

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