Literature DB >> 21706002

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

Alexander Hoischen1, 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.   

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.

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Year:  2011        PMID： 21706002     DOI： 10.1038/ng.868

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


  13 in total

1.  De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

Authors:  Alexander Hoischen; 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
Journal:  Nat Genet       Date:  2010-05-02       Impact factor: 38.330

Review 2.  New cases of Bohring-Opitz syndrome, update, and critical review of the literature.

Authors:  Axel Bohring; Grétel G Oudesluijs; Dorothy K Grange; Giuseppe Zampino; Patrick Thierry
Journal:  Am J Med Genet A       Date:  2006-06-15       Impact factor: 2.802

3.  Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia.

Authors:  J Boultwood; J Perry; A Pellagatti; M Fernandez-Mercado; C Fernandez-Santamaria; M J Calasanz; M J Larrayoz; M Garcia-Delgado; A Giagounidis; L Malcovati; M G Della Porta; M Jädersten; S Killick; E Hellström-Lindberg; M Cazzola; J S Wainscoat
Journal:  Leukemia       Date:  2010-02-25       Impact factor: 11.528

4.  Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.

Authors:  Benjamín Rodríguez-Santiago; Núria Malats; Nathaniel Rothman; Lluís Armengol; Montse Garcia-Closas; Manolis Kogevinas; Olaya Villa; Amy Hutchinson; Julie Earl; Gaëlle Marenne; Kevin Jacobs; Daniel Rico; Adonina Tardón; Alfredo Carrato; Gilles Thomas; Alfonso Valencia; Debra Silverman; Francisco X Real; Stephen J Chanock; Luis A Pérez-Jurado
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

5.  Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Authors:  Christian Gilissen; Heleen H Arts; Alexander Hoischen; Liesbeth Spruijt; Dorus A Mans; Peer Arts; Bart van Lier; Marloes Steehouwer; Jeroen van Reeuwijk; Sarina G Kant; Ronald Roepman; Nine V A M Knoers; Joris A Veltman; Han G Brunner
Journal:  Am J Hum Genet       Date:  2010-09-10       Impact factor: 11.025

Review 6.  Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Authors:  Rob Hastings; Jan-Maarten Cobben; Gabriele Gillessen-Kaesbach; Judith Goodship; Hanne Hove; Susanne Kjaergaard; Helena Kemp; Helen Kingston; Peter Lunt; Sahar Mansour; Ruth McGowan; Kay Metcalfe; Catherine Murdoch-Davis; Mary Ray; Marlène Rio; Sarah Smithson; John Tolmie; Peter Turnpenny; Bregje van Bon; Dagmar Wieczorek; Ruth Newbury-Ecob
Journal:  Eur J Hum Genet       Date:  2011-02-02       Impact factor: 4.246

7.  Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. UK Cancer Cytogenetics Group (UKCCG).

Authors:  A J Bench; E P Nacheva; T L Hood; J L Holden; L French; S Swanton; K M Champion; J Li; P Whittaker; G Stavrides; A R Hunt; B J Huntly; L J Campbell; D R Bentley; P Deloukas; A R Green
Journal:  Oncogene       Date:  2000-08-10       Impact factor: 9.867

8.  ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia.

Authors:  Véronique Gelsi-Boyer; Virginie Trouplin; Julien Roquain; José Adélaïde; Nadine Carbuccia; Benjamin Esterni; Pascal Finetti; Anne Murati; Christine Arnoulet; Hacène Zerazhi; Hacène Fezoui; Zoulika Tadrist; Meyer Nezri; Max Chaffanet; Marie-Joëlle Mozziconacci; Norbert Vey; Daniel Birnbaum
Journal:  Br J Haematol       Date:  2010-09-29       Impact factor: 6.998

9.  Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice.

Authors:  C L Fisher; I Lee; S Bloyer; S Bozza; J Chevalier; A Dahl; C Bodner; C D Helgason; J L Hess; R K Humphries; H W Brock
Journal:  Dev Biol       Date:  2009-10-13       Impact factor: 3.582

10.  Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

Authors:  Tadashi Kaname; Kumiko Yanagi; Yasutsugu Chinen; Yoshio Makita; Nobuhiko Okamoto; Hiroki Maehara; Ichiro Owan; Fuminori Kanaya; Yoshiaki Kubota; Yuichi Oike; Toshiyuki Yamamoto; Kenji Kurosawa; Yoshimitsu Fukushima; Axel Bohring; John M Opitz; Ko-Ichiro Yoshiura; Norio Niikawa; Kenji Naritomi
Journal:  Am J Hum Genet       Date:  2007-08-27       Impact factor: 11.025
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  105 in total

Review 1.  Aberrant histone modifications induced by mutant ASXL1 in myeloid neoplasms.

Authors:  Shuhei Asada; Toshio Kitamura
Journal:  Int J Hematol       Date:  2018-12-05       Impact factor: 2.490

Review 2.  Disordered epigenetic regulation in the pathophysiology of myeloproliferative neoplasms.

Authors:  Su-Jiang Zhang; Omar Abdel-Wahab
Journal:  Curr Hematol Malig Rep       Date:  2012-03       Impact factor: 3.952

3.  2011 William Allan Award introduction: John M. Opitz.

Authors:  Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2012-03-09       Impact factor: 11.025

4.  Epigenetics and mutations in chronic myeloproliferative neoplasms.

Authors:  Alessandro M Vannucchi; Flavia Biamonte
Journal:  Haematologica       Date:  2011-10       Impact factor: 9.941

Review 5.  The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Authors:  Tony Shen; Ariel Lee; Carol Shen; C Jimmy Lin
Journal:  Genet Res (Camb)       Date:  2015-09-14       Impact factor: 1.588

Review 6.  Genetic studies in intellectual disability and related disorders.

Authors:  Lisenka E L M Vissers; Christian Gilissen; Joris A Veltman
Journal:  Nat Rev Genet       Date:  2015-10-27       Impact factor: 53.242

7.  Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

Authors:  Karin Weiss; Kristen Wigby; Madeleine Fannemel; Lindsay B Henderson; Natalie Beck; Neeti Ghali; D D D Study; Britt-Marie Anderlid; Johanna Lundin; Ada Hamosh; Marilyn C Jones; Sondhya Ghedia; Maximilian Muenke; Paul Kruszka
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246

8.  Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells.

Authors:  Lisa Rank; Sebastian Veith; Eva C Gwosch; Janine Demgenski; Magdalena Ganz; Marjolijn C Jongmans; Christopher Vogel; Arthur Fischbach; Stefanie Buerger; Jan M F Fischer; Tabea Zubel; Anna Stier; Christina Renner; Michael Schmalz; Sascha Beneke; Marcus Groettrup; Roland P Kuiper; Alexander Bürkle; Elisa Ferrando-May; Aswin Mangerich
Journal:  Nucleic Acids Res       Date:  2016-09-29       Impact factor: 16.971

9.  De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Authors:  Vandana Shashi; Loren D M Pena; Katherine Kim; Barbara Burton; Maja Hempel; Kelly Schoch; Magdalena Walkiewicz; Heather M McLaughlin; Megan Cho; Nicholas Stong; Scott E Hickey; Christine M Shuss; Michael S Freemark; Jane S Bellet; Martha Ann Keels; Melanie J Bonner; Maysantoine El-Dairi; Megan Butler; Peter G Kranz; Constance T R M Stumpel; Sylvia Klinkenberg; Karin Oberndorff; Malik Alawi; Rene Santer; Slavé Petrovski; Outi Kuismin; Satu Korpi-Heikkilä; Olli Pietilainen; Palotie Aarno; Mitja I Kurki; Alexander Hoischen; Anna C Need; David B Goldstein; Fanny Kortüm
Journal:  Am J Hum Genet       Date:  2016-09-29       Impact factor: 11.025

Review 10.  The Role of Additional Sex Combs-Like Proteins in Cancer.

Authors:  Jean-Baptiste Micol; Omar Abdel-Wahab
Journal:  Cold Spring Harb Perspect Med       Date:  2016-10-03       Impact factor: 6.915
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