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

E. Bonora; J.A. Lamb; G. Barnby; N Sykes; T Moberly; K.S. Beyer; S.M. Klauck; F Poustka; E. Bacchelli; F. Blasi; E. Maestrini; A Battaglia; D Haracopos; L Pedersen; T Isager; G Eriksen; B Viskum; EU Sorensen; K Brondum-Nielsen; R Cotterill; H. van Engeland; M. de Jonge; C. Kemner; K Steggehuis; M. Scherpenisse; M. Rutter; P.F. Bolton; J.R. Parr; A. Poustka; A.J. Bailey; A.P. Monaco

doi:10.1038/sj.ejhg.5201315

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

E. Bonora, J.A. Lamb, G. Barnby, N Sykes, T Moberly, K.S. Beyer, S.M. Klauck, F Poustka, E. Bacchelli, F. Blasi, E. Maestrini, A Battaglia, D Haracopos, L Pedersen, T Isager, G Eriksen, B Viskum, EU Sorensen, K Brondum-Nielsen, R CotterillH. van Engeland, M. de Jonge, C. Kemner, K Steggehuis, M. Scherpenisse, M. Rutter, P.F. Bolton, J.R. Parr, A. Poustka, A.J. Bailey, A.P. Monaco

Psychiatry

Research output: Contribution to journal › Article › Academic › peer-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 language	English
Pages (from-to)	198-207
Number of pages	10
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
candidate genes
brain development
mutation screening
linkage disequilibrium
transmission disequilibrium
PERVASIVE DEVELOPMENTAL DISORDERS
LINKAGE DISEQUILIBRIUM
DIABETES-MELLITUS
ADHESION MOLECULE
FAMILY HISTORY
PROTEIN
REGION
RECEPTOR
TRAITS
LOCUS

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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, EU., Brondum-Nielsen, K., ... 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{a2bfeaafc7a54e32bdbb5f5da2629448,

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.",

keywords = "autism, candidate genes, brain development, mutation screening, linkage disequilibrium, transmission disequilibrium, PERVASIVE DEVELOPMENTAL DISORDERS, LINKAGE DISEQUILIBRIUM, DIABETES-MELLITUS, ADHESION MOLECULE, FAMILY HISTORY, PROTEIN, REGION, RECEPTOR, TRAITS, LOCUS",

author = "E. Bonora and J.A. Lamb and G. Barnby and N Sykes and T Moberly and K.S. Beyer and S.M. Klauck and F Poustka and E. Bacchelli and F. Blasi and E. Maestrini and A Battaglia and D Haracopos and L Pedersen and T Isager and G Eriksen and B Viskum and EU Sorensen and K Brondum-Nielsen and R Cotterill and {van Engeland}, H. and {de Jonge}, M. and C. Kemner and K Steggehuis and M. Scherpenisse and M. Rutter and P.F. Bolton and J.R. Parr and A. Poustka and A.J. Bailey and A.P. Monaco",

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 = "Nature Publishing Group",

number = "2",

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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, van 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

TY - JOUR

T1 - Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

AU - Bonora, E.

AU - Lamb, J.A.

AU - Barnby, G.

AU - Sykes, N

AU - Moberly, T

AU - Beyer, K.S.

AU - Klauck, S.M.

AU - Poustka, F

AU - Bacchelli, E.

AU - Blasi, F.

AU - Maestrini, E.

AU - Battaglia, A

AU - Haracopos, D

AU - Pedersen, L

AU - Isager, T

AU - Eriksen, G

AU - Viskum, B

AU - Sorensen, EU

AU - Brondum-Nielsen, K

AU - Cotterill, R

AU - van Engeland, H.

AU - de Jonge, M.

AU - Kemner, C.

AU - Steggehuis, K

AU - Scherpenisse, M.

AU - Rutter, M.

AU - Bolton, P.F.

AU - Parr, J.R.

AU - Poustka, A.

AU - Bailey, A.J.

AU - Monaco, A.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.

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 - autism

KW - candidate genes

KW - brain development

KW - mutation screening

KW - linkage disequilibrium

KW - transmission disequilibrium

KW - PERVASIVE DEVELOPMENTAL DISORDERS

KW - LINKAGE DISEQUILIBRIUM

KW - DIABETES-MELLITUS

KW - ADHESION MOLECULE

KW - FAMILY HISTORY

KW - PROTEIN

KW - REGION

KW - RECEPTOR

KW - TRAITS

KW - LOCUS

U2 - 10.1038/sj.ejhg.5201315

DO - 10.1038/sj.ejhg.5201315

M3 - 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 -

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

Abstract

Keywords

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