Analysis of reelin as a candidate gene for autism

Jonathan Green; E. Bonora; K. S. Beyer; J. A. Lamb; J. R. Parr; S. M. Klauck; A. Benner; M. Paolucci; A. Abbott; I. Ragoussis; A. Poustka; A. J. Bailey; A. P. Monaco

doi:10.1038/sj.mp.4001310

Analysis of reelin as a candidate gene for autism

Jonathan Green, E. Bonora, K. S. Beyer, J. A. Lamb, J. R. Parr, S. M. Klauck, A. Benner, M. Paolucci, A. Abbott, I. Ragoussis, A. Poustka, A. J. Bailey, A. P. Monaco

Research output: Contribution to journal › Article › peer-review

Abstract

Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify relevant gene(s) and report here the analysis of reelin (RELN), a gene located under our peak of linkage. Screening RELN for DNA changes identified novel missense variants absent in a large control group; however, the low frequency of these mutations does not explain the relatively strong linkage results on 7q. Furthermore, analysis of a previously reported triplet repeat polymorphism and intragenic single nucleotide polymorphisms, using the transmission disequilibrium test, provided no evidence for association with autism in IMGSAC and German singleton families. The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals.

Original language	English
Pages (from-to)	885-892
Number of pages	7
Journal	Molecular psychiatry
Volume	8
Issue number	10
DOIs	https://doi.org/10.1038/sj.mp.4001310
Publication status	Published - 2003

Keywords

Autism
Brain development
Candidate genes
Mutation screening
Reelin

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title = "Analysis of reelin as a candidate gene for autism",

abstract = "Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify relevant gene(s) and report here the analysis of reelin (RELN), a gene located under our peak of linkage. Screening RELN for DNA changes identified novel missense variants absent in a large control group; however, the low frequency of these mutations does not explain the relatively strong linkage results on 7q. Furthermore, analysis of a previously reported triplet repeat polymorphism and intragenic single nucleotide polymorphisms, using the transmission disequilibrium test, provided no evidence for association with autism in IMGSAC and German singleton families. The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals.",

keywords = "Autism, Brain development, Candidate genes, Mutation screening, Reelin",

author = "Jonathan Green and E. Bonora and Beyer, {K. S.} and Lamb, {J. A.} and Parr, {J. R.} and Klauck, {S. M.} and A. Benner and M. Paolucci and A. Abbott and I. Ragoussis and A. Poustka and Bailey, {A. J.} and Monaco, {A. P.}",

year = "2003",

doi = "10.1038/sj.mp.4001310",

language = "English",

volume = "8",

pages = "885--892",

journal = "Molecular psychiatry",

issn = "1359-4184",

publisher = "Springer Nature",

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TY - JOUR

T1 - Analysis of reelin as a candidate gene for autism

AU - Green, Jonathan

AU - Bonora, E.

AU - Beyer, K. S.

AU - Lamb, J. A.

AU - Parr, J. R.

AU - Klauck, S. M.

AU - Benner, A.

AU - Paolucci, M.

AU - Abbott, A.

AU - Ragoussis, I.

AU - Poustka, A.

AU - Bailey, A. J.

AU - Monaco, A. P.

PY - 2003

Y1 - 2003

N2 - Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify relevant gene(s) and report here the analysis of reelin (RELN), a gene located under our peak of linkage. Screening RELN for DNA changes identified novel missense variants absent in a large control group; however, the low frequency of these mutations does not explain the relatively strong linkage results on 7q. Furthermore, analysis of a previously reported triplet repeat polymorphism and intragenic single nucleotide polymorphisms, using the transmission disequilibrium test, provided no evidence for association with autism in IMGSAC and German singleton families. The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals.

AB - Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify relevant gene(s) and report here the analysis of reelin (RELN), a gene located under our peak of linkage. Screening RELN for DNA changes identified novel missense variants absent in a large control group; however, the low frequency of these mutations does not explain the relatively strong linkage results on 7q. Furthermore, analysis of a previously reported triplet repeat polymorphism and intragenic single nucleotide polymorphisms, using the transmission disequilibrium test, provided no evidence for association with autism in IMGSAC and German singleton families. The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals.

KW - Autism

KW - Brain development

KW - Candidate genes

KW - Mutation screening

KW - Reelin

U2 - 10.1038/sj.mp.4001310

DO - 10.1038/sj.mp.4001310

M3 - Article

SN - 1359-4184

VL - 8

SP - 885

EP - 892

JO - Molecular psychiatry

JF - Molecular psychiatry

IS - 10

ER -

Analysis of reelin as a candidate gene for autism

Abstract

Keywords

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