Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

Elena Bonora, Janine A. Lamb, Gabrielle Barnby, Nuala Sykes, Thomas Moberly, Kim S. Beyer, Sabine M. Klauck, Firtz Poustka, Elena Bacchelli, Francesca Blasi, Elena Maestrini, Agatino Battaglia, Demetrios Haracopos, Lennart Pedersen, Torben Isager, Gunna Eriksen, Birgitte Viskum, Ester Ulsted Sorensen, Karen Brondum-Nielsen, Rodney CotterillHerman von Engeland, Maretha de Jonge, Chantal Kemner, Karlijn Steggehuis, Margret Scherpenisse, Michael Rutter, Patrick F. Bolton, Jeremy R. Parr, Annemarie Poustka, Anthony J. Bailey, Anthony P. Monaco

Research output: Contribution to journalArticlepeer-review

Abstract

Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility.

Original languageEnglish
Pages (from-to)198-207
Number of pages10
JournalEuropean Journal of Human Genetics
Volume13
Issue number2
DOIs
Publication statusPublished - Feb 2005

Keywords

  • Autism
  • Brain development
  • Candidate genes
  • Linkage disequilibrium
  • Mutation screening
  • Transmission disequilibrium

ASJC Scopus subject areas

  • Genetics(clinical)

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