Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

E. Bacchelli; F. Blasi; M. Biondolillo; J. A. Lamb; E. Bonora; G. Barnby; J. Parr; K. S. Beyer; S. M. Klauck; A. Poustka; A. J. Bailey; A. P. Monaco; E. Maestrini; Jonathan Green

doi:10.1038/sj.mp.4001340

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

E. Bacchelli, F. Blasi, M. Biondolillo, J. A. Lamb, E. Bonora, G. Barnby, J. Parr, K. S. Beyer, S. M. Klauck, A. Poustka, A. J. Bailey, A. P. Monaco, E. Maestrini, Jonathan Green

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Abstract

The results from several genome scans indicate that chromosome 2q21-q33 is likely to contain an autism susceptibility locus. We studied the potential contribution of nine positional and functional candidate genes: TBR-1; GAD1; DLX1; DLX2; cAMP-GEFII; CHN1; ATF2; HOXD1 and NEUROD1. Screening these genes for DNA variants and association analysis using intragenic single nucleotide polymorphisms did not provide evidence for a major role in the aetiology of autism. Four rare nonsynonymous variants were identified, however, in the cAMP-GEFII gene. These variants were present in five families, where they segregate with the autistic phenotype, and were not observed in control individuals. The significance of these variants is unclear, as their low frequency in IMGSAC families does not account for the relatively strong linkage signal at the 2q locus. Further studies are needed to clarify the contribution of cAMP-GEFII gene variants to autism susceptibility.

Original language	English
Pages (from-to)	916-924
Number of pages	8
Journal	Molecular psychiatry
Volume	8
Issue number	11
DOIs	https://doi.org/10.1038/sj.mp.4001340
Publication status	Published - 2003

Keywords

Association
Autistic disorder
Chromosome 2
Mutation screening
Susceptibility gene

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Bacchelli, E., Blasi, F., Biondolillo, M., Lamb, J. A., Bonora, E., Barnby, G., Parr, J., Beyer, K. S., Klauck, S. M., Poustka, A., Bailey, A. J., Monaco, A. P., Maestrini, E., & Green, J. (2003). Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. Molecular psychiatry, 8(11), 916-924. https://doi.org/10.1038/sj.mp.4001340

@article{28bcae1d5a6943d9b6ebe07bad885ca7,

title = "Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene",

abstract = "The results from several genome scans indicate that chromosome 2q21-q33 is likely to contain an autism susceptibility locus. We studied the potential contribution of nine positional and functional candidate genes: TBR-1; GAD1; DLX1; DLX2; cAMP-GEFII; CHN1; ATF2; HOXD1 and NEUROD1. Screening these genes for DNA variants and association analysis using intragenic single nucleotide polymorphisms did not provide evidence for a major role in the aetiology of autism. Four rare nonsynonymous variants were identified, however, in the cAMP-GEFII gene. These variants were present in five families, where they segregate with the autistic phenotype, and were not observed in control individuals. The significance of these variants is unclear, as their low frequency in IMGSAC families does not account for the relatively strong linkage signal at the 2q locus. Further studies are needed to clarify the contribution of cAMP-GEFII gene variants to autism susceptibility.",

keywords = "Association, Autistic disorder, Chromosome 2, Mutation screening, Susceptibility gene",

author = "E. Bacchelli and F. Blasi and M. Biondolillo and Lamb, {J. A.} and E. Bonora and G. Barnby and J. Parr and Beyer, {K. S.} and Klauck, {S. M.} and A. Poustka and Bailey, {A. J.} and Monaco, {A. P.} and E. Maestrini and Jonathan Green",

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doi = "10.1038/sj.mp.4001340",

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pages = "916--924",

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Bacchelli, E, Blasi, F, Biondolillo, M, Lamb, JA, Bonora, E, Barnby, G, Parr, J, Beyer, KS, Klauck, SM, Poustka, A, Bailey, AJ, Monaco, AP, Maestrini, E & Green, J 2003, 'Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene', Molecular psychiatry, vol. 8, no. 11, pp. 916-924. https://doi.org/10.1038/sj.mp.4001340

TY - JOUR

T1 - Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

AU - Bacchelli, E.

AU - Blasi, F.

AU - Biondolillo, M.

AU - Lamb, J. A.

AU - Bonora, E.

AU - Barnby, G.

AU - Parr, J.

AU - Beyer, K. S.

AU - Klauck, S. M.

AU - Poustka, A.

AU - Bailey, A. J.

AU - Monaco, A. P.

AU - Maestrini, E.

AU - Green, Jonathan

N1 - DA - 20031031IS - 1359-4184 (Print)LA - engPT - Journal ArticlePT - Research Support, Non-U.S. Gov'tRN - 0 (5730402K07Rik protein, mouse)RN - 0 (Carrier Proteins)RN - 0 (Guanine Nucleotide Exchange Factors)RN - 0 (RAPGEF4 protein, human)RN - 60-92-4 (Cyclic AMP)SB - IM

PY - 2003

Y1 - 2003

N2 - The results from several genome scans indicate that chromosome 2q21-q33 is likely to contain an autism susceptibility locus. We studied the potential contribution of nine positional and functional candidate genes: TBR-1; GAD1; DLX1; DLX2; cAMP-GEFII; CHN1; ATF2; HOXD1 and NEUROD1. Screening these genes for DNA variants and association analysis using intragenic single nucleotide polymorphisms did not provide evidence for a major role in the aetiology of autism. Four rare nonsynonymous variants were identified, however, in the cAMP-GEFII gene. These variants were present in five families, where they segregate with the autistic phenotype, and were not observed in control individuals. The significance of these variants is unclear, as their low frequency in IMGSAC families does not account for the relatively strong linkage signal at the 2q locus. Further studies are needed to clarify the contribution of cAMP-GEFII gene variants to autism susceptibility.

AB - The results from several genome scans indicate that chromosome 2q21-q33 is likely to contain an autism susceptibility locus. We studied the potential contribution of nine positional and functional candidate genes: TBR-1; GAD1; DLX1; DLX2; cAMP-GEFII; CHN1; ATF2; HOXD1 and NEUROD1. Screening these genes for DNA variants and association analysis using intragenic single nucleotide polymorphisms did not provide evidence for a major role in the aetiology of autism. Four rare nonsynonymous variants were identified, however, in the cAMP-GEFII gene. These variants were present in five families, where they segregate with the autistic phenotype, and were not observed in control individuals. The significance of these variants is unclear, as their low frequency in IMGSAC families does not account for the relatively strong linkage signal at the 2q locus. Further studies are needed to clarify the contribution of cAMP-GEFII gene variants to autism susceptibility.

KW - Association

KW - Autistic disorder

KW - Chromosome 2

KW - Mutation screening

KW - Susceptibility gene

U2 - 10.1038/sj.mp.4001340

DO - 10.1038/sj.mp.4001340

M3 - Article

SN - 1359-4184

VL - 8

SP - 916

EP - 924

JO - Molecular psychiatry

JF - Molecular psychiatry

IS - 11

ER -

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

Abstract

Keywords

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