Document Detail


The parent-of-origin of the extra X chromosome may differentially affect psychopathology in Klinefelter syndrome.
MedLine Citation:
PMID:  21035791     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Several genetic mechanisms have been proposed for the variability of the Klinefelter syndrome (KS) phenotype such as the parent-of-origin of the extra X chromosome. Parent-of-origin effects on behavior in KS can possibly provide insights into X-linked imprinting effects on psychopathology that may be extrapolated to other populations. Here, we investigated whether the parent-of-origin of the supernumerary X chromosome influences autistic and schizotypal symptom profiles in KS.
METHODS: Parent-of-origin of the X chromosome was determined through analysis of the polymorphic CAG tandem repeat of the androgen receptor gene. Autistic traits (Autism Diagnostic Interview-Revised) were measured in a younger KS sample (n = 33) with KS and schizotypal traits (Schizotypal Personality Questionnaire) were assessed in an older KS sample (n = 43). Scale scores on these questionnaires were entered in statistical analyses to test parent-of-origin effects.
RESULTS: The results show that parent-of-origin of the X chromosome is reflected in autistic and schizotypal symptomatology. Differences were shown in the degree of both schizotypal and autistic symptoms between the parent-of-origin groups. Furthermore, the parent-of-origin could be correctly discriminated in more than 90% of subjects through Autism Diagnostic Interview-Revised scales and in around 80% of subjects through Schizotypal Personality Questionnaire scales.
CONCLUSIONS: These findings point to parent-of-origin effects on psychopathology in KS and indicate that imprinted X chromosomal genes may have differential effects on autistic and schizotypal traits. Further exploration of imprinting effects on psychopathology in KS is needed to confirm and expand on our findings.
Authors:
Hilgo Bruining; Sophie van Rijn; Hanna Swaab; Jacques Giltay; Wendy Kates; Martien J H Kas; Herman van Engeland; Leo de Sonneville
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2010-10-29
Journal Detail:
Title:  Biological psychiatry     Volume:  68     ISSN:  1873-2402     ISO Abbreviation:  Biol. Psychiatry     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-06     Completed Date:  2011-04-07     Revised Date:  2014-09-19    
Medline Journal Info:
Nlm Unique ID:  0213264     Medline TA:  Biol Psychiatry     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1156-62     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Autistic Disorder / complications,  diagnosis,  genetics*
Child
Chromosomes, Human, X / genetics*
Female
Genomic Imprinting*
Humans
Klinefelter Syndrome / complications,  genetics*
Male
Middle Aged
Parents*
Psychiatric Status Rating Scales
Receptors, Androgen / genetics
Schizotypal Personality Disorder / complications,  diagnosis,  genetics*
Tandem Repeat Sequences
Grant Support
ID/Acronym/Agency:
MH64824/MH/NIMH NIH HHS; R01 MH064824/MH/NIMH NIH HHS; R01 MH064824-01/MH/NIMH NIH HHS
Chemical
Reg. No./Substance:
0/Receptors, Androgen
Comments/Corrections

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