Article
Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
European journal of medical genetics - 1 Jan 2000
Quenard Aline, Yilmaz Saliha, Fontaine Hervé, Bienvenu Thierry, Moncla Anne, des Portes Vincent, Rivier François, Mathieu Michèle, Raux Grégory, Jonveaux Philippe, Philippe Christophe
Abstract excerpt
The MECP2 gene is responsible for 80-85% of typical cases of Rett syndrome with deleterious mutations affecting exons 3 and 4. Recently, an alternate transcript including exon 1 was discovered with a new protein isoform (MeCP2_e1) much more abundant in brain. We screened exon 1 of MECP2 for mutations and for large rearrangements in a panel of 212 typical cases of Rett syndrome and one family case with atypical...
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