کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2814418 | 1569548 | 2006 | 10 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Deleterious mutations in exon 1 of MECP2 in Rett syndrome Deleterious mutations in exon 1 of MECP2 in Rett syndrome](/preview/png/2814418.png)
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.
Journal: European Journal of Medical Genetics - Volume 49, Issue 4, July–August 2006, Pages 313–322