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Rett syndrome (OMIM # 312750) is a progressive neurological disorder that is inherited in an X-linked dominant fashion. The clinical variability of Rett syndrome is broad and studies to assess genotype-phenotype correlation have been inconsistent.
Our collection of Rett syndrome cell lines came from thirty-four individuals, twenty-four of whom are affected with Rett syndrome. There are twenty-three affected females and one affected male ranging in age from two to thirty years. The ten unaffected individuals are first-degree relatives of the affected individuals. Of the twenty-four affected individuals, nineteen have an identified mutation in the MECP2 gene (OMIM # 300005). There are twelve different MECP2 mutations represented in the affected individuals, including missense, nonsense, and frameshift mutations.
Many of the cell lines were collected with the assistance of the Rett Syndrome Research Foundation and these lines have corresponding clinical information. The parameters collected include both physical and behavioral manifestations of Rett syndrome. The clinical information is available for download in an Excel spreadsheet .
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