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Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2
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Personen und Körperschaften: | , , , , |
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Titel: |
Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2 |
In: | American Journal of Medical Genetics Part A, 137A, 2005, 2, S. 136-138 |
veröffentlicht: |
Wiley
|
Umfang: | 136-138 |
ISSN: |
1552-4825 1552-4833 |
DOI: | 10.1002/ajmg.a.30764 |
Zusammenfassung: | <jats:title>Abstract</jats:title><jats:p>Mutations in the <jats:italic>MECP2</jats:italic> gene are found in only 80% of patients with Rett syndrome (RTT). Therefore other genes have to be involved in the pathogenesis of RTT. By using our defined diagnostic criteria we first re‐evaluated 50 girls with possible RTT in whom the sequencing of the <jats:italic>MECP2</jats:italic> gene had not revealed any mutations. Only 15 of theses patients fulfilled all criteria for RTT and could be considered to have classical RTT. In eight of these, further molecular analyses revealed large deletions of the <jats:italic>MECP2</jats:italic> gene. In the remaining seven girls we then analyzed the genes <jats:italic>HDAC1</jats:italic>, <jats:italic>HDAC2</jats:italic>, and <jats:italic>HDAC8</jats:italic> that encode for the histone deacetylases 1, 2, and 8 which interact with MeCP2 and are essential for its function. Although these histone deacetylase genes have been considered as good candidate genes for RTT our molecular analysis of these genes did not detect any mutations. Because recently mutations in <jats:italic>CDKL5</jats:italic> were reported in patients with RTT, we included this gene in our analysis but failed to detect any mutations. We conclude that only a subgroup of girls with possible RTT and no detectable mutation in the sequencing of the <jats:italic>MECP2</jats:italic> gene do really have classical RTT. In many of those large <jats:italic>MECP2</jats:italic> gene deletions can be detected by further analysis. The genes <jats:italic>HDAC1</jats:italic>, <jats:italic>HDAC2</jats:italic>, and <jats:italic>HDAC8</jats:italic> do not seem to play a role in the pathogenesis of RTT and at least in our subgroup no mutations in the <jats:italic>CDKL5</jats:italic> gene were detected. © 2005 Wiley‐Liss, Inc.</jats:p> |
Format: | E-Article |
Quelle: | Wiley (CrossRef) |
Sprache: | Englisch |