A 15q13.3 microdeletion segregating with autism

Janine Lamb; Alistair T. Pagnamenta; Kirsty Wing; Elham Sadighi Akha; Samantha J L Knight; Sven Bölte; Gabriele Schmötzer; Eftichia Duketis; Fritz Poustka; Sabine M. Klauck; Annemarie Poustka; Jiannis Ragoussis; Anthony J. Bailey; Anthony P. Monaco

doi:10.1038/ejhg.2008.228

A 15q13.3 microdeletion segregating with autism

Janine Lamb, Alistair T. Pagnamenta, Kirsty Wing, Elham Sadighi Akha, Samantha J L Knight, Sven Bölte, Gabriele Schmötzer, Eftichia Duketis, Fritz Poustka, Sabine M. Klauck, Annemarie Poustka, Jiannis Ragoussis, Anthony J. Bailey, Anthony P. Monaco

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

Abstract

Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare ∼2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.

Original language	English
Pages (from-to)	687-692
Number of pages	5
Journal	European Journal of Human Genetics
Volume	17
Issue number	5
DOIs	https://doi.org/10.1038/ejhg.2008.228
Publication status	Published - 2009

Access to Document

10.1038/ejhg.2008.228

Cite this

@article{456cf9e63ae04583824e7dacc224fe00,

title = "A 15q13.3 microdeletion segregating with autism",

abstract = "Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare ∼2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.",

author = "Janine Lamb and Pagnamenta, {Alistair T.} and Kirsty Wing and Akha, {Elham Sadighi} and Knight, {Samantha J L} and Sven B{\"o}lte and Gabriele Schm{\"o}tzer and Eftichia Duketis and Fritz Poustka and Klauck, {Sabine M.} and Annemarie Poustka and Jiannis Ragoussis and Bailey, {Anthony J.} and Monaco, {Anthony P.}",

year = "2009",

doi = "10.1038/ejhg.2008.228",

language = "English",

volume = "17",

pages = "687--692",

journal = "European Journal of Human Genetics",

issn = "1476-5438",

publisher = "Springer Nature",

number = "5",

}

TY - JOUR

T1 - A 15q13.3 microdeletion segregating with autism

AU - Lamb, Janine

AU - Pagnamenta, Alistair T.

AU - Wing, Kirsty

AU - Akha, Elham Sadighi

AU - Knight, Samantha J L

AU - Bölte, Sven

AU - Schmötzer, Gabriele

AU - Duketis, Eftichia

AU - Poustka, Fritz

AU - Klauck, Sabine M.

AU - Poustka, Annemarie

AU - Ragoussis, Jiannis

AU - Bailey, Anthony J.

AU - Monaco, Anthony P.

PY - 2009

Y1 - 2009

N2 - Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare ∼2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.

AB - Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare ∼2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.

U2 - 10.1038/ejhg.2008.228

DO - 10.1038/ejhg.2008.228

M3 - Article

SN - 1476-5438

VL - 17

SP - 687

EP - 692

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 5

ER -

A 15q13.3 microdeletion segregating with autism

Abstract

Access to Document

Fingerprint

Cite this