De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

被引：208

作者：

Hoischen, Alexander ^{[1
]}

van Bon, Bregje W. M. ^{[1
]}

Rodriguez-Santiago, Benjamin ^{[1
,2
,3
]}

Gilissen, Christian ^{[1
]}

Vissers, Lisenka E. L. M. ^{[1
]}

de Vries, Petra ^{[1
]}

Janssen, Irene ^{[1
]}

van Lier, Bart ^{[1
]}

Hastings, Rob ^{[4
]}

Smithson, Sarah F. ^{[4
]}

Newbury-Ecob, Ruth ^{[4
]}

Kjaergaard, Susanne ^{[5
]}

Goodship, Judith ^{[6
]}

McGowan, Ruth ^{[7
]}

Bartholdi, Deborah ^{[8
]}

Rauch, Anita ^{[8
]}

Peippo, Maarit ^{[9
]}

Cobben, Jan M. ^{[10
]}

Wieczorek, Dagmar ^{[11
]}

Gillessen-Kaesbach, Gabriele ^{[12
]}

Veltman, Joris A. ^{[1
]}

Brunner, Han G. ^{[1
]}

de Vries, Bert B. B. A. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[2] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Barcelona, Spain

[3] CIBERER, Barcelona, Spain

[4] St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England

[5] Rigshosp, Univ Copenhagen Hosp, Dept Clin Genet, Copenhagen, Denmark

[6] Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[7] Yorkhill Hosp, Dept Med Genet, Glasgow, Lanark, Scotland

[8] Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

[9] Family Federat Finland, Dept Med Genet, Helsinki, Finland

[10] Emma Kinderziekenhuis Acad Med Ctr AMC, Dept Pediat Genet, Amsterdam, Netherlands

[11] Univ Klinikum Essen, Inst Humangenet, Essen, Germany

[12] Univ Lubeck, Inst Humangenet Lubeck, Lubeck, Germany

来源：

NATURE GENETICS | 2011年 / 43卷 / 08期

关键词：

TRIGONOCEPHALY SYNDROME; VARIANTS; LEUKEMIA;

D O I：

10.1038/ng.868

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous.

引用

页码：729 / 731

页数：3

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