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Literature DB >> 20436468

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

Alexander Hoischen¹, Bregje W M van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier, Koen Devriendt, Marta Z Amorim, Nicole Revencu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian M Hayes, Elizabeth M Thompson, Han G Brunner, Bert B A de Vries, Joris A Veltman.

Abstract

Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.

Entities: Chemical Disease Gene Mutation

Mesh：

Substances：

Year: 2010 PMID： 20436468 DOI： 10.1038/ng.581

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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Authors: Karen Buysse; Björn Menten; Ann Oostra; Sylvie Tavernier; Geert R Mortier; Frank Speleman
Journal: Am J Med Genet A Date: 2008-05-15 Impact factor: 2.802

3. There are two major types of skeletal keratan sulphates.

Authors: I A Nieduszynski; T N Huckerby; J M Dickenson; G M Brown; G H Tai; H G Morris; S Eady
Journal: Biochem J Date: 1990-10-01 Impact factor: 3.857

Review 4. Noonan syndrome and related disorders: genetics and pathogenesis.

Authors: Marco Tartaglia; Bruce D Gelb
Journal: Annu Rev Genomics Hum Genet Date: 2005 Impact factor: 8.929

5. Massively parallel sequencing of ataxia genes after array-based enrichment.

Authors: Alexander Hoischen; Christian Gilissen; Peer Arts; Nienke Wieskamp; Walter van der Vliet; Sascha Vermeer; Marloes Steehouwer; Petra de Vries; Rowdy Meijer; Jorge Seiqueros; Nine V A M Knoers; Michael F Buckley; Hans Scheffer; Joris A Veltman
Journal: Hum Mutat Date: 2010-04 Impact factor: 4.878

6. Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).

Authors: Ioannis Panagopoulos; Gitte Kerndrup; Niels Carlsen; Bodil Strömbeck; Margareth Isaksson; Bertil Johansson
Journal: Br J Haematol Date: 2007-01 Impact factor: 6.998

7. A gene atlas of the mouse and human protein-encoding transcriptomes.

Authors: Andrew I Su; Tim Wiltshire; Serge Batalov; Hilmar Lapp; Keith A Ching; David Block; Jie Zhang; Richard Soden; Mimi Hayakawa; Gabriel Kreiman; Michael P Cooke; John R Walker; John B Hogenesch
Journal: Proc Natl Acad Sci U S A Date: 2004-04-09 Impact factor: 11.205

8. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.

Authors: A Schinzel; A Giedion
Journal: Am J Med Genet Date: 1978

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Authors: Anna M Lehman; Deborah McFadden; Denise Pugash; Karan Sangha; William T Gibson; Millan S Patel
Journal: Am J Med Genet A Date: 2008-05-15 Impact factor: 2.802

10. Targeted capture and massively parallel sequencing of 12 human exomes.

Authors: Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal: Nature Date: 2009-08-16 Impact factor: 49.962

184 in total

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Review 3. Exome sequencing: a transformative technology.

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Review 4. Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

Authors: Xi Lin; Wenxue Tang; Shoeb Ahmad; Jingqiao Lu; Candice C Colby; Jason Zhu; Qing Yu
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5. Clan genomics and the complex architecture of human disease.

Authors: James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal: Cell Date: 2011-09-30 Impact factor: 41.582

6. Exome sequencing and the genetic basis of complex traits.

Authors: Adam Kiezun; Kiran Garimella; Ron Do; Nathan O Stitziel; Benjamin M Neale; Paul J McLaren; Namrata Gupta; Pamela Sklar; Patrick F Sullivan; Jennifer L Moran; Christina M Hultman; Paul Lichtenstein; Patrik Magnusson; Thomas Lehner; Yin Yao Shugart; Alkes L Price; Paul I W de Bakker; Shaun M Purcell; Shamil R Sunyaev
Journal: Nat Genet Date: 2012-05-29 Impact factor: 38.330

Review 7. Personalized medicine: hope or hype?

Authors: Keyan Salari; Hugh Watkins; Euan A Ashley
Journal: Eur Heart J Date: 2012-06-01 Impact factor: 29.983