Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements

被引：9

作者：

Longo, I

Russo, L

Meloni, I

Ricci, I

Ariani, F

Pescucci, C

Giordano, CT

Canitano, R

Hayek, G

Zappella, M

Neri, G

Renieri, A

Gurrieri, F

机构：

[1] Univ Sacred Heart, Fac Med, Ist Genet Med, I-00168 Rome, Italy

[2] Univ Siena, I-53100 Siena, Italy

[3] Azienda Osped Senese, Siena, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2004年 / 12卷 / 08期

关键词：

autism; Rett syndrome; chromosome; 15; rearrangements;

D O I：

10.1038/sj.ejhg.5201198

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Autism and Rett syndrome, a severe neurological disorder with autistic behavior, are classified as separate disorders on clinical and etiological ground. Rett syndrome is a monogenic X-linked dominant condition due to de novo mutations in the MECP2 gene, whereas autism is a neurodevelopmental and behavioral disorder with complex genetic basis. Maternally inherited duplications on 15q11-q13 are found in a fraction of autistic children suggesting that an abnormal dosage of gene(s) within this region might cause susceptibility to autism. Now we show that three Rett patients are carriers of both a MECP2 mutation and a 15q11-q13 rearrangement, suggesting that there might be a relationship between autism-related genes and the MECP2 gene. European Journal of Human Genetics (2004).

引用

页码：682 / 685

页数：4

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