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

Dorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, Annabel C. Whibley, Astrid R. Oudakker, Susanne Kjaergaard, Angela M. Vianna-Morgante, Tjitske Kleefstra, Mariken Ruiter, Fernanda S. Jehee, Reinhard Ullmann, Charles E. Schwartz, Michael Stratton, F. Lucy Raymond, Joris A. Veltman, Terry Vrijenhoek, Rolph Pfundt, Janneke H.M. Schuurs-Hoeijmakers, Jayne Y. Hehir-Kwa, Guy FroyenJamel Chelly, Hans Hilger Ropers, Claude Moraine, Jozef Gécz, Jeroen Knijnenburg, Sarina G. Kant, Ben C.J. Hamel, Carla Rosenberg, Hans Van Bokhoven, Arjan P.M. De Brouwer

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4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)638-645
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
Publication statusPublished or Issued - Mar 2010
Externally publishedYes


  • Copy number variation
  • Mental retardation
  • Non-allelichomologous recombination
  • Xp11 zinc finger cluster
  • ZNF630

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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