De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations-Reference-Cited by-同舟云学术

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

Published:2016-11-14 Issue:2 Volume:173 Page:435-443
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dennert Nicola¹,Engels Hartmut¹,Cremer Kirsten¹,Becker Jessica¹,Wohlleber Eva¹,Albrecht Beate²,Ehret Julia K.¹,Lüdecke Hermann-Josef²³,Suri Mohnish⁴,Carignani Giulia⁵,Renieri Alessandra⁵,Kukuk Guido M.⁶,Wieland Thomas⁷,Andrieux Joris⁸,Strom Tim M.⁷,Wieczorek Dagmar²³,Dieux-Coëslier Anne⁹,Zink Alexander M.¹

Affiliation:

1. Institute of Human Genetics; University of Bonn; Bonn Germany

2. Institut für Humangenetik; Universitätsklinikum Essen; Universität Duisburg-Essen; Essen Germany

3. Institute of Human Genetics; Medical Faculty; Heinrich-Heine-University; Düsseldorf Germany

4. Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust; City Hospital Campus; Nottingham United Kingdom

5. Medical Genetics Unit; University of Siena; Siena Italy

6. Department of Radiology; University of Bonn; Bonn Germany

7. Institute of Human Genetics; Helmholtz Zentrum München; Neuherberg Germany

8. Laboratory of Medical Genetics; Hôpital Jeanne de Flandre University Hospital; Lille France

9. Clinical Genetics; Hôpital Jeanne de France University Hospital; Lille France

Funder

German Ministry of Research and Education

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38034/fullpdf

Reference37 articles.

1. SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumors;Alatzoglou;Hum Mutat,2011

2. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions;Bakrania;Br J Ophthalmol,2007

3. Vertebrate neurogenesis is counteracted by Sox1-3 activity;Bylund;Nat Neurosci,2003

4. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement;Chassaing;Am J Med Genet Part A,2007

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