Premium
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Author(s) -
Lugtenberg Dorien,
ZangrandeVieira Luiz,
Kirchhoff Maria,
Whibley Annabel C.,
Oudakker Astrid R.,
Kjaergaard Susanne,
ViannaMorgante 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,
SchuursHoeijmakers Janneke H.M.,
HehirKwa 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.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33292
Subject(s) - non allelic homologous recombination , segmental duplication , breakpoint , gene , gene duplication , genetics , allele , biology , homologous chromosome , recombination , genome , chromosomal translocation , gene family , genetic recombination
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. © 2010 Wiley‐Liss, Inc.