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

2004; Springer Nature; Volume: 12; Issue: 8 Linguagem: Inglês

10.1038/sj.ejhg.5201198

1476-5438

Ilaria Longo, Luisa Russo, Ilaria Meloni, Iolanda Ricci, Francesca Ariani, Chiara Pescucci, Carmela Tiziana Giordano, Roberto Canitano, Joussef Hayek, Michele Zappella, Giovanni Neri, Alessandra Renieri, Fiorella Gurrieri,

Genomic variations and chromosomal abnormalities

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.