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Article Dans Une Revue European Journal of Medical Genetics Année : 2006

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Résumé

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 Rett syndrome. We identified two deleterious mutations (c.48_55dup and c.62+2_62+3del) and four large rearrangements encompassing exon 1 of MECP2. We also identified the c.16_21dup alteration formerly reported as c.3_4insGCCGCC and give additional support to classify this sequence variation as polymorphic. In our large panel of typical Rett, mutations affecting exon 1 of MECP2 represent 1% of the deleterious alleles. This study confirms that mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.

Domaines

Neurosciences

Dates et versions

hal-00655311 , version 1 (27-12-2011)

Identifiants

Citer

Aline Quenard, Saliha Yilmaz, Hervé Fontaine, Thierry Bienvenu, Anne Moncla, et al.. Deleterious mutations in exon 1 of MECP2 in Rett syndrome.. European Journal of Medical Genetics, 2006, 49 (4), pp.313-22. ⟨10.1016/j.ejmg.2005.11.002⟩. ⟨hal-00655311⟩
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