TY - JOUR
T1 - Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
AU - Green, Jonathan
AU - Bonora, Elena
AU - Lamb, Janine A.
AU - Barnby, Gabrielle
AU - Sykes, Nuala
AU - Moberly, Thomas
AU - Beyer, Kim S.
AU - Klauck, Sabine M.
AU - Poustka, Firtz
AU - Bacchelli, Elena
AU - Blasi, Francesca
AU - Maestrini, Elena
AU - Battaglia, Agatino
AU - Haracopos, Demetrios
AU - Pedersen, Lennart
AU - Isager, Torben
AU - Eriksen, Gunna
AU - Viskum, Birgitte
AU - Sorensen, Ester Ulsted
AU - Brondum-Nielsen, Karen
AU - Cotterill, Rodney
AU - von Engeland, Herman
AU - de Jonge, Maretha
AU - Kemner, Chantal
AU - Steggehuis, Karlijn
AU - Scherpenisse, Margret
AU - Rutter, Michael
AU - Bolton, Patrick F.
AU - Parr, Jeremy R.
AU - Poustka, Annemarie
AU - Bailey, Anthony J.
AU - Monaco, Anthony P.
PY - 2005/2
Y1 - 2005/2
N2 - 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. © 2005 Nature Publishing Group All rights reserved.
AB - 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. © 2005 Nature Publishing Group All rights reserved.
KW - Autism
KW - Brain development
KW - Candidate genes
KW - Linkage disequilibrium
KW - Mutation screening
KW - Transmission disequilibrium
U2 - 10.1038/sj.ejhg.5201315
DO - 10.1038/sj.ejhg.5201315
M3 - Article
SN - 1018-4813
VL - 13
SP - 198
EP - 207
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 2
ER -