TY - JOUR
T1 - Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
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 M J
AU - Engeland, Herman von
AU - Jonge, Maretha de
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
AU - International Molecular Genetic Study of Austism Consortium
PY - 2005
Y1 - 2005
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.
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.
KW - Autistic Disorder
KW - Cell Adhesion Molecules
KW - Chromosomes, Human, Pair 7
KW - Female
KW - Gene Expression Regulation
KW - Genetic Predisposition to Disease
KW - Humans
KW - Lamin Type B
KW - Male
KW - Promoter Regions, Genetic
KW - Quantitative Trait Loci
KW - Untranslated Regions
U2 - 10.1038/sj.ejhg.5201315
DO - 10.1038/sj.ejhg.5201315
M3 - Journal article
C2 - 15523497
SN - 1018-4813
VL - 13
SP - 198
EP - 207
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 2
ER -