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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 533727.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
Authors:Lugtenberg, Dorien; Zangrande-Vieira, Luiz; Kirchhoff, Maria; Whibley, Annabel C.; Oudakker, Astrid R.; Kjaergaard, Susanne; Vianna-Morgante, Angela M.; Kleefstra, Tjitske; Ruiter, Mariken; Jehee, Fernanda S.; Ullmann, Reinhard; Schwartz, Charles E.; Stratton, Michael; Raymond, F. Lucy; Veltman, Joris A.; Vrijenhoek, Terry; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H.M.; Hehir-Kwa, Jayne Y.; Froyen, Guy; Chelly, Jamel; Ropers, Hans-Hilger; Moraine, Claude; Gècz, Jozef; Knijnenburg, Jeroen; Kant, Sarina G.; Hamel, Ben C.J.; Rosenberg, Carla; van Bokhoven, Hans; de Brouwer, Arjan P.M.
Language:English
Date of Publication (YYYY-MM-DD):2010-02-10
Title of Journal:American Journal of Medical Genetics. Part A.
Journal Abbrev.:Am. J. Med. Genet. A
Volume:152A
Issue / Number:3
Start Page:638
End Page:645
Copyright:© 2010 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description:ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating that the deletions resulted from non-allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6-fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P-value = 0.174). Conversely, a 1.9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation
Free Keywords:mental retardation;
ZNF630;
non-allelic homologous recombination;
copy number variation
Comment of the Author/Creator:Email: Arjan P.M. de Brouwer (a.debrouwer@antrg.umcn.nl)
Correspondence: Arjan P.M. de Brouwer, Department of Human Genetics—855, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;
2.Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil;
3.Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark;
4.Cambridge Institute of Medical Research, Cambridge, UK;
5.JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA;
6.Institute of Cancer Research, Surrey, UK;
7.Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Centre for Human genetics, K.U. Leuven, Leuven, Belgium;
8.Université Paris Descartes, Institut Cochin, INSERM Unité 567, CNRS UMR 8104, Paris, France;
9.Centre Hospitalier Régional Universitaire de Tours, Service de Genetique, INSERM U930, Tours, France;
10.Hospital, University of Adelaide, Adelaide, Australia;
11.Department of Paediatrics, University of Adelaide, Adelaide, Australia;
12.Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands;
13.Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;
14.A.C. Camargo Hospital, São Paulo, Brazil.
Identifiers:URL:http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a....
ISSN:1552-4825
DOI:10.1002/ajmg.a.33292
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