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Mutation screening of X‐chromosomal neuroligin genes: No mutations in 196 autism probands

Mutation screening of X‐chromosomal neuroligin genes: No mutations in 196 autism probands Autism, a childhood neuropsychiatric disorder with a strong genetic component, is currently the focus of considerable attention within the field of human genetics as well many other medical‐related disciplines. A recent study has implicated two X‐chromosomal neuroligin genes, NLGN3 and NLGN4, as having an etiological role in autism, having identified a frameshift mutation in one gene and a substitution mutation in the other, segregating in multiplex autism spectrum families (Jamain et al. [2003: Nat Genet 34:27–29]). The function of neuroligin as a trigger for synapse formation would suggest that such mutations would likely result in some form of pathological manifestation. Our own study, screening a larger sample of 196 autism probands, failed to identify any mutations that would affect the coding regions of these genes. Our findings suggest that mutations in these two genes are infrequent in autism. © 2004 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Mutation screening of X‐chromosomal neuroligin genes: No mutations in 196 autism probands

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References (9)

Publisher
Wiley
Copyright
"Copyright © 2004 Wiley Subscription Services, Inc., A Wiley Company"
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.b.30069
pmid
15274046
Publisher site
See Article on Publisher Site

Abstract

Autism, a childhood neuropsychiatric disorder with a strong genetic component, is currently the focus of considerable attention within the field of human genetics as well many other medical‐related disciplines. A recent study has implicated two X‐chromosomal neuroligin genes, NLGN3 and NLGN4, as having an etiological role in autism, having identified a frameshift mutation in one gene and a substitution mutation in the other, segregating in multiplex autism spectrum families (Jamain et al. [2003: Nat Genet 34:27–29]). The function of neuroligin as a trigger for synapse formation would suggest that such mutations would likely result in some form of pathological manifestation. Our own study, screening a larger sample of 196 autism probands, failed to identify any mutations that would affect the coding regions of these genes. Our findings suggest that mutations in these two genes are infrequent in autism. © 2004 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part AWiley

Published: Mar 15, 2005

Keywords: ; ; ; ;

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