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    
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.
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:  2013-07-03    
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.
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, the Netherlands.
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MeSH Terms
Autistic Disorder / complications,  diagnosis,  genetics*
Chromosomes, Human, X / genetics*
Genomic Imprinting*
Klinefelter Syndrome / complications,  genetics*
Middle Aged
Psychiatric Status Rating Scales
Receptors, Androgen / genetics
Schizotypal Personality Disorder / complications,  diagnosis,  genetics*
Tandem Repeat Sequences
Grant Support
Reg. No./Substance:
0/Receptors, Androgen

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