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

Jonathan Green; 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 Cotterill; Herman 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

doi:10.1038/sj.ejhg.5201315

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

Jonathan Green, 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-NielsenRodney Cotterill, Herman 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

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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. © 2005 Nature Publishing Group All rights reserved.

Original language	English
Pages (from-to)	198-207
Number of pages	9
Journal	European Journal of Human Genetics
Volume	13
Issue number	2
DOIs	https://doi.org/10.1038/sj.ejhg.5201315
Publication status	Published - Feb 2005

Keywords

Autism
Brain development
Candidate genes
Linkage disequilibrium
Mutation screening
Transmission disequilibrium

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10.1038/sj.ejhg.5201315

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Green, J., Bonora, E., Lamb, J. A., Barnby, G., Sykes, N., Moberly, T., Beyer, K. S., Klauck, S. M., Poustka, F., Bacchelli, E., Blasi, F., Maestrini, E., Battaglia, A., Haracopos, D., Pedersen, L., Isager, T., Eriksen, G., Viskum, B., Sorensen, E. U., ... Monaco, A. P. (2005). Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. European Journal of Human Genetics, 13(2), 198-207. https://doi.org/10.1038/sj.ejhg.5201315

@article{046be8ef713748feb2b91d05882fc04f,

title = "Mutation screening and association analysis of six candidate genes for autism on chromosome 7q",

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. {\textcopyright} 2005 Nature Publishing Group All rights reserved.",

keywords = "Autism, Brain development, Candidate genes, Linkage disequilibrium, Mutation screening, Transmission disequilibrium",

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

year = "2005",

month = feb,

doi = "10.1038/sj.ejhg.5201315",

language = "English",

volume = "13",

pages = "198--207",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "2",

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Green, J, Bonora, E, Lamb, JA, Barnby, G, Sykes, N, Moberly, T, Beyer, KS, Klauck, SM, Poustka, F, Bacchelli, E, Blasi, F, Maestrini, E, Battaglia, A, Haracopos, D, Pedersen, L, Isager, T, Eriksen, G, Viskum, B, Sorensen, EU, Brondum-Nielsen, K, Cotterill, R, von Engeland, H, de Jonge, M, Kemner, C, Steggehuis, K, Scherpenisse, M, Rutter, M, Bolton, PF, Parr, JR, Poustka, A, Bailey, AJ & Monaco, AP 2005, 'Mutation screening and association analysis of six candidate genes for autism on chromosome 7q', European Journal of Human Genetics, vol. 13, no. 2, pp. 198-207. https://doi.org/10.1038/sj.ejhg.5201315

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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

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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 -

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

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Keywords

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