Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
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.
Lugtenberg
Dorien
D
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.
Zangrande-Vieira
Luiz
L
Kirchhoff
Maria
M
Whibley
Annabel C
AC
Oudakker
Astrid R
AR
Kjaergaard
Susanne
S
Vianna-Morgante
Angela M
AM
Kleefstra
Tjitske
T
Ruiter
Mariken
M
Jehee
Fernanda S
FS
Ullmann
Reinhard
R
Schwartz
Charles E
CE
Stratton
Michael
M
Raymond
F Lucy
FL
Veltman
Joris A
JA
Vrijenhoek
Terry
T
Pfundt
Rolph
R
Schuurs-Hoeijmakers
Janneke H M
JH
Hehir-Kwa
Jayne Y
JY
Froyen
Guy
G
Chelly
Jamel
J
Ropers
Hans Hilger
HH
Moraine
Claude
C
Gècz
Jozef
J
Knijnenburg
Jeroen
J
Kant
Sarina G
SG
Hamel
Ben C J
BC
Rosenberg
Carla
C
van Bokhoven
Hans
H
de Brouwer
Arjan P M
AP
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*
D012097:Repressor Proteins; C422407:ZNF350 protein, human