Study of MECP2 gene in Rett syndrome variants and autistic girls

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 119B Số 1 - Trang 102-107 - 2003
Michele Zappella1, Ilaria Meloni2, Ilaria Longo2, Roberto Canitano1, Joussef Hayek1, Lucia Rosaia3, Francesca Mari2, Alessandra Renieri2
1Department of Child Neuropsychiatry, Azienda Ospedaliera Senese, Siena, Italy
2Medical Genetics, Department of Molecular Biology, University of Siena, Italy
3Molecular Genetics, Istituto G.Gaslini, Genova, Italy

Tóm tắt

AbstractMutations in MECP2 gene account for approximately 80% of cases of Rett syndrome (RTT), an X‐linked severe developmental disorder affecting young girls, as well as for most cases of Preserved Speech Variant (PSV), a mild RTT variant in which autistic behavior is common. The aim of this study is to determine whether MECP2 mutations are responsible for PSV only or may cause other forms of autistic disorders. We screened for mutations by SSCP 19 girls with a clinical diagnosis of autism, two of them fulfilling the PSV criteria. A pathogenic mutation was found only in the latter two cases (R133C and R453X). A long follow‐up of these two girls revealed a unique clinical course. They initially developed the first three stages of RTT, they were severely retarded and had autistic behavior. Over the years their abilities increased progressively and by early adolescence they lost autistic behavior, becoming adequately accustomed to people and reaching an IQ close to 45. These results confirm previous clinical studies suggesting that a wide spectrum of RTT exists including girls with mental abilities considerably higher than in classic RTT. We conclude that MECP2 mutations (missense or late truncating) can be found in girls with an IQ close to 45 and a clinical history of PSV of Rett syndrome. Furthermore, MECP2 mutations are not found in patients in which autism remains stable over the years. © 2003 Wiley‐Liss, Inc.

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American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Tập 119B Số 1

102-107

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