Deletions in the 3′ Part of theNFIXGene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome-Reference-Cited by-同舟云学术

Deletions in the 3′ Part of theNFIXGene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome

Published:2014-07-08 Issue:9 Volume:35 Page:1092-1100
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Schanze Denny¹,Neubauer Dorothée¹,Cormier-Daire Valerie²,Delrue Marie-Ange³,Dieux-Coeslier Anne⁴,Hasegawa Tomonobu⁵,Holmberg Eva E.⁶,Koenig Rainer⁷,Krueger Gabriele⁸,Schanze Ina¹,Seemanova Eva⁹,Shaw Adam C.¹⁰,Vogt Julie¹¹,Volleth Marianne¹,Reis André¹²,Meinecke Peter¹³,Hennekam Raoul C.M.¹⁴,Zenker Martin¹¹²

Affiliation:

1. Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany

2. Département de Génétique, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781; Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades; Paris Cedex France

3. Department of Medical Genetics; Pellegrin Hospital; Bordeaux France

4. Department of Medical Genetics; Jeanne de Flandre Hospital; Lille France

5. Department of Pediatrics; Keio University School of Medicine; Tokyo Japan

6. Department of Medical Genetics; Oslo University Hospital; Oslo Norway

7. Institute of Human Genetics; Johann Wolfgang Goethe University Hospital; Frankfurt/Main Germany

8. Medical Genetics Unit, Department of Pediatrics; University Hospital Rostock; Rostock Germany

9. Institute of Biology & Medical Genetics, Department of Clinical Genetics; Praha Czech Republic

10. Clinical Genetics, Guy's & St Thomas' Hospitals; London United Kingdom

11. West Midlands Regional Genetics Service, Clinical Genetics Unit; Birmingham Women's Hospital; West Midlands United Kingdom

12. Institute of Human Genetics; Universität Erlangen-Nürnberg; Erlangen Germany

13. Institute of Human Genetics; University Hospital Hamburg-Eppendorf; Hamburg Germany

14. Department of Pediatrics H7-236, Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22603/fullpdf

Reference27 articles.

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2. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia;Boone;Genet Med,2011

3. On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease;Cooper;Hum Mutat,2011

4. Alu repeats and human disease;Deininger;Mol Genet Metab,1999

5. Two regions within the DNA binding domain of nuclear factor I interact with DNA and stimulate adenovirus DNA replication independently;Dekker;Mol Cell Biol,1996

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