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
收藏
页码：682 / 685
页数：4
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