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  Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.

Lugtenberg, D., Zangrande-Vieira, L., Kirchhoff, M., Whibley, A. C., Oudakker, A. R., Kjaergaard, S., et al. (2010). Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics. Part A., 152A(3), 638-645. doi:10.1002/ajmg.a.33292.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7BE7-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7BE8-0
Genre: Journal Article
Alternative Title : Am. J. Med. Genet. A

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 Creators:
Lugtenberg, Dorien, Author
Zangrande-Vieira, Luiz, Author
Kirchhoff, Maria, Author
Whibley, Annabel C., Author
Oudakker, Astrid R., Author
Kjaergaard, Susanne, Author
Vianna-Morgante, Angela M., Author
Kleefstra, Tjitske, Author
Ruiter, Mariken, Author
Jehee, Fernanda S., Author
Ullmann, Reinhard1, Author              
Schwartz, Charles E., Author
Stratton, Michael, Author
Raymond, F. Lucy, Author
Veltman, Joris A., Author
Vrijenhoek, Terry, Author
Pfundt, Rolph, Author
Schuurs-Hoeijmakers, Janneke H.M., Author
Hehir-Kwa, Jayne Y., Author
Froyen, Guy, Author
Chelly, Jamel, AuthorRopers, Hans-Hilger2, Author              Moraine, Claude, AuthorGècz, Jozef, AuthorKnijnenburg, Jeroen, AuthorKant, Sarina G., AuthorHamel, Ben C.J., AuthorRosenberg, Carla, Authorvan Bokhoven, Hans, Authorde Brouwer, Arjan P.M., Author more..
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: mental retardation; ZNF630; non-allelic homologous recombination; copy number variation
 Abstract: 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

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Language(s): eng - English
 Dates: 2010-02-10
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
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Title: American Journal of Medical Genetics. Part A.
  Alternative Title : Am. J. Med. Genet. A
Source Genre: Journal
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Pages: - Volume / Issue: 152A (3) Sequence Number: - Start / End Page: 638 - 645 Identifier: ISSN: 1552-4825