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No evidence for involvement of genetic variants in the X‐linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level

No evidence for involvement of genetic variants in the X‐linked neuroligin genes NLGN3 and NLGN4X... Several lines of evidence indicate a role of mutations in the two X‐linked genes neuroligin 3 (NLGN3) and neuroligin 4 (NLGN4X) in the etiology of autistic spectrum disorders. To analyze whether genetic variants in the NLGN3 and NLGN4X genes occurs in patients with autistic disorders on high functioning level, we performed a mutation screen of both genes using SSCP in 107 probands with Asperger syndrome, high‐functioning autism and atypical autism. We identified four polymorphisms (rs2290488, rs7049300, rs3747333, rs3747334) and one novel synonymous variant (A558) in the NLGN4X. The polymorphisms rs7049300, rs3747333, and rs3747334 did not cause any amino acid substitutions in the total of the eight detected carriers. A family‐based association study for rs2290488 in 101 trios did not reveal association of this polymorphism with autistic disorders on high functioning level. We conclude that there is no evidence for an involvement of NLGN3 and NLGN4X genetic variants with autism spectrum disorder on high functioning level in our study group. © 2008 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics part B Wiley

No evidence for involvement of genetic variants in the X‐linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level

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References (26)

Publisher
Wiley
Copyright
Copyright © 2008 Wiley‐Liss, Inc., A Wiley Company
ISSN
1552-4841
eISSN
1552-485X
DOI
10.1002/ajmg.b.30618
pmid
18189281
Publisher site
See Article on Publisher Site

Abstract

Several lines of evidence indicate a role of mutations in the two X‐linked genes neuroligin 3 (NLGN3) and neuroligin 4 (NLGN4X) in the etiology of autistic spectrum disorders. To analyze whether genetic variants in the NLGN3 and NLGN4X genes occurs in patients with autistic disorders on high functioning level, we performed a mutation screen of both genes using SSCP in 107 probands with Asperger syndrome, high‐functioning autism and atypical autism. We identified four polymorphisms (rs2290488, rs7049300, rs3747333, rs3747334) and one novel synonymous variant (A558) in the NLGN4X. The polymorphisms rs7049300, rs3747333, and rs3747334 did not cause any amino acid substitutions in the total of the eight detected carriers. A family‐based association study for rs2290488 in 101 trios did not reveal association of this polymorphism with autistic disorders on high functioning level. We conclude that there is no evidence for an involvement of NLGN3 and NLGN4X genetic variants with autism spectrum disorder on high functioning level in our study group. © 2008 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics part BWiley

Published: Jun 5, 2008

Keywords: neuroligin 3; neuroligin 4; autism spectrum disorder; Asperger syndrome; X‐chromosome

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