Deleterious mutations in exon 1 of MECP2 in Rett syndrome
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 mutation...
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Published in | European journal of medical genetics Vol. 49; no. 4; pp. 313 - 322 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Amsterdam
Elsevier Masson SAS
01.07.2006
Elsevier |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1769-7212 1878-0849 |
DOI: | 10.1016/j.ejmg.2005.11.002 |