title: Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
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.
authors.affiliation: 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.
authors.forename: Dorien
authors.initials: D
authors.lastname: Lugtenberg
authors.forename: Luiz
authors.initials: L
authors.lastname: Zangrande-Vieira
authors.forename: Maria
authors.initials: M
authors.lastname: Kirchhoff
authors.forename: Annabel C
authors.initials: AC
authors.lastname: Whibley
authors.forename: Astrid R
authors.initials: AR
authors.lastname: Oudakker
authors.forename: Susanne
authors.initials: S
authors.lastname: Kjaergaard
authors.forename: Angela M
authors.initials: AM
authors.lastname: Vianna-Morgante
authors.forename: Tjitske
authors.initials: T
authors.lastname: Kleefstra
authors.forename: Mariken
authors.initials: M
authors.lastname: Ruiter
authors.forename: Fernanda S
authors.initials: FS
authors.lastname: Jehee
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Michael
authors.initials: M
authors.lastname: Stratton
authors.forename: F Lucy
authors.initials: FL
authors.lastname: Raymond
authors.forename: Joris A
authors.initials: JA
authors.lastname: Veltman
authors.forename: Terry
authors.initials: T
authors.lastname: Vrijenhoek
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Janneke H M
authors.initials: JH
authors.lastname: Schuurs-Hoeijmakers
authors.forename: Jayne Y
authors.initials: JY
authors.lastname: Hehir-Kwa
authors.forename: Guy
authors.initials: G
authors.lastname: Froyen
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
authors.forename: Hans Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Claude
authors.initials: C
authors.lastname: Moraine
authors.forename: Jozef
authors.initials: J
authors.lastname: Gècz
authors.forename: Jeroen
authors.initials: J
authors.lastname: Knijnenburg
authors.forename: Sarina G
authors.initials: SG
authors.lastname: Kant
authors.forename: Ben C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.forename: Hans
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: Arjan P M
authors.initials: AP
authors.lastname: de Brouwer
mesh_terms: D016022:Case-Control Studies; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011995:Recombination, Genetic; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D012097:Repressor Proteins; C422407:ZNF350 protein, human