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

被引：54

作者：

Rossi, Elena

Verri, Anna Pia ^{[2
]}

Patricelli, Maria Grazia ^{[3
]}

Destefani, Valeria ^{[2
]}

Ricca, Ivana ^{[2
]}

Vetro, Annalisa

Ciccone, Roberto

Giorda, Roberto ^{[4
]}

Toniolo, Daniela ^{[5
,6
]}

Maraschio, Paola

Zuffardi, Orsetta ^{[1
,2
]}

机构：

[1] Univ Pavia, Dipartimento Patol Umana Ereditaria, Sez Biol Gen & Genet Med, I-27100 Pavia, Italy

[2] Ist Sci C Mondino, Pavia, Italy

[3] Osped San Raffaele Milano, Lab Biol Mol & Citogenet, Milan, Italy

[4] Ist Sci E Medea, Bosisio Parini, Lecco, Italy

[5] IRCCS San Raffaele, Dipartimento Ric Biotecnol DIBIT, Milan, Italy

[6] CNR, Ist Genet Mol, I-27100 Pavia, Italy

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2008年 / 51卷 / 06期

关键词：

Autism spectrum disorders; Primary amenorrhea; Array-CGH; CNTNAP2; NOBOX;

D O I：

10.1016/j.ejmg.2008.06.010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2008 Elsevier Masson SAS. All rights reserved.

引用

页码：631 / 638

页数：8

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