De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen; Bregje W.M. Van Bon; Benjamín Rodríguez-Santiago; Christian Gilissen; Lisenka E.L.M. Vissers; Petra De Vries; Irene Janssen; Bart Van Lier; Rob Hastings; Sarah F. Smithson; Ruth Newbury-Ecob; Susanne Kjaergaard; Judith Goodship; Ruth McGowan; Deborah Bartholdi; Anita Rauch; Maarit Peippo; Jan M. Cobben; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Joris A. Veltman; Han G. Brunner; Bert B.B.A. De Vries

doi:10.1038/ng.868

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen, Bregje W.M. Van Bon, Benjamín Rodríguez-Santiago, Christian Gilissen, Lisenka E.L.M. Vissers, Petra De Vries, Irene Janssen, Bart Van Lier, Rob Hastings, Sarah F. Smithson, Ruth Newbury-Ecob, Susanne Kjaergaard, Judith Goodship, Ruth McGowan, Deborah Bartholdi, Anita Rauch, Maarit Peippo, Jan M. Cobben, Dagmar Wieczorek, Gabriele Gillessen-KaesbachJoris A. Veltman, Han G. Brunner^*, Bert B.B.A. De Vries

^*Corresponding author for this work

Institute of Human Genetics

229 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Nature Genetics
Volume	43
Issue number	8
Pages (from-to)	729-731
Number of pages	3
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.868
Publication status	Published - 01.08.2011

Funding

supported by the Netherlands Organization for Health Research and Development (ZonMW grants 917-66-36 and 911-08-025 to J.A.V., 916-86-016 to L.E.L.M.V. and 917-86-319 to B.B.B.A.d.V.), the EU-funded TECHGENE project (Health-F5-2009-223143 to J.A.V.) and the AnEUploidy project (LSHG-CT-2006-37627 to A.H., B.W.M.v.B., H.G.B., B.B.B.A.d.V. and J.A.V.). The Family Federation of Finland is funded by Finland’s Slot Machine Association (RAY). B. R.-S. was supported by a postdoctoral fellowship of the Fondo Investigación Sanitaria, Spain (FIS CD06/00019).

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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Hoischen, A., Van Bon, B. W. M., Rodríguez-Santiago, B., Gilissen, C., Vissers, L. E. L. M., De Vries, P., Janssen, I., Van Lier, B., Hastings, R., Smithson, S. F., Newbury-Ecob, R., Kjaergaard, S., Goodship, J., McGowan, R., Bartholdi, D., Rauch, A., Peippo, M., Cobben, J. M., Wieczorek, D., ... De Vries, B. B. B. A. (2011). De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics, 43(8), 729-731. https://doi.org/10.1038/ng.868

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title = "De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome",

abstract = "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.",

author = "Alexander Hoischen and \{Van Bon\}, \{Bregje W.M.\} and Benjam{\'i}n Rodr{\'i}guez-Santiago and Christian Gilissen and Vissers, \{Lisenka E.L.M.\} and \{De Vries\}, Petra and Irene Janssen and \{Van Lier\}, Bart and Rob Hastings and Smithson, \{Sarah F.\} and Ruth Newbury-Ecob and Susanne Kjaergaard and Judith Goodship and Ruth McGowan and Deborah Bartholdi and Anita Rauch and Maarit Peippo and Cobben, \{Jan M.\} and Dagmar Wieczorek and Gabriele Gillessen-Kaesbach and Veltman, \{Joris A.\} and Brunner, \{Han G.\} and \{De Vries\}, \{Bert B.B.A.\}",

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doi = "10.1038/ng.868",

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Hoischen, A, Van Bon, BWM, Rodríguez-Santiago, B, Gilissen, C, Vissers, LELM, De Vries, P, Janssen, I, Van Lier, B, Hastings, R, Smithson, SF, Newbury-Ecob, R, Kjaergaard, S, Goodship, J, McGowan, R, Bartholdi, D, Rauch, A, Peippo, M, Cobben, JM, Wieczorek, D, Gillessen-Kaesbach, G, Veltman, JA, Brunner, HG & De Vries, BBBA 2011, 'De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome', Nature Genetics, vol. 43, no. 8, pp. 729-731. https://doi.org/10.1038/ng.868

TY - JOUR

T1 - De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

AU - Hoischen, Alexander

AU - Van Bon, Bregje W.M.

AU - Rodríguez-Santiago, Benjamín

AU - Gilissen, Christian

AU - Vissers, Lisenka E.L.M.

AU - De Vries, Petra

AU - Janssen, Irene

AU - Van Lier, Bart

AU - Hastings, Rob

AU - Smithson, Sarah F.

AU - Newbury-Ecob, Ruth

AU - Kjaergaard, Susanne

AU - Goodship, Judith

AU - McGowan, Ruth

AU - Bartholdi, Deborah

AU - Rauch, Anita

AU - Peippo, Maarit

AU - Cobben, Jan M.

AU - Wieczorek, Dagmar

AU - Gillessen-Kaesbach, Gabriele

AU - Veltman, Joris A.

AU - Brunner, Han G.

AU - De Vries, Bert B.B.A.

PY - 2011/8/1

Y1 - 2011/8/1

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/79960909421

U2 - 10.1038/ng.868

DO - 10.1038/ng.868

M3 - Journal articles

C2 - 21706002

AN - SCOPUS:79960909421

SN - 1061-4036

VL - 43

SP - 729

EP - 731

JO - Nature Genetics

JF - Nature Genetics

IS - 8

ER -

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Abstract

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