A 12 Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

Elena Rossi; Anna Pia Verri; Maria Grazia Patricelli; Valeria Destefani; Ivana Ricca; Annalisa Vetro; Roberto Ciccone; Roberto Giorda; Daniela Toniolo; Paola Maraschio; Orsetta Zuffardi

doi:10.1016/j.ejmg.2008.06.010

A 12 Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

Elena Rossi, Anna Pia Verri, Maria Grazia Patricelli, Valeria Destefani, Ivana Ricca, Annalisa Vetro, Roberto Ciccone, Roberto Giorda, Daniela Toniolo, Paola Maraschio, Orsetta Zuffardi

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

Abstract

An interstitial deletion of about 12 Mb at 7q33-q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX, both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.

Original language	English
Pages (from-to)	631-638
Number of pages	8
Journal	European Journal of Medical Genetics
Volume	51
Issue number	6
DOIs	https://doi.org/10.1016/j.ejmg.2008.06.010
Publication status	Published - Nov 2008

Keywords

Array-CGH
Autism spectrum disorders
CNTNAP2
NOBOX
Primary amenorrhea

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1016/j.ejmg.2008.06.010

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title = "A 12 Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea",

abstract = "An interstitial deletion of about 12 Mb at 7q33-q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX, both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.",

keywords = "Array-CGH, Autism spectrum disorders, CNTNAP2, NOBOX, Primary amenorrhea",

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AU - Rossi, Elena

AU - Verri, Anna Pia

AU - Patricelli, Maria Grazia

AU - Destefani, Valeria

AU - Ricca, Ivana

AU - Vetro, Annalisa

AU - Ciccone, Roberto

AU - Giorda, Roberto

AU - Toniolo, Daniela

AU - Maraschio, Paola

AU - Zuffardi, Orsetta

PY - 2008/11

Y1 - 2008/11

N2 - An interstitial deletion of about 12 Mb at 7q33-q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX, both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.

AB - An interstitial deletion of about 12 Mb at 7q33-q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX, both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.

KW - Array-CGH

KW - Autism spectrum disorders

KW - CNTNAP2

KW - NOBOX

KW - Primary amenorrhea

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A 12 Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

Abstract

Keywords

ASJC Scopus subject areas

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