A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE
Tarih
2015Yazar
Ozer, L.
Uysal, S.
Dilber, C.
Gungor, O.
Kirik, S.
Cevizli, D.
Karaokur, F.
Üst veri
Tüm öğe kaydını gösterÖzet
A Rett syndrome case with novel non-identical mutation in MECP2 gene: The Rett syndrome (RTT; OMIM #312750) is a rare genetic disease observed predominantly among girls that affects neurological development. The incidence of this disorder is approximately 1 in 10,000 female births. Diagnosis of the RTT is based on specific clinical criteria and the identification of a mutation in the methyl-CpG-binding protein (MECP), which mainly occurs on exons 3 and 4 of the gene. Mutations in the X-linked methyl-CpG binding protein 2 gene (MECP2) are observed in nearly 95% of RTT cases. RTT is associated with considerable genotypic and phenotypic heterogeneity. Recently, it has been observed that mutations in the genes Netrin G1 and cyclin-dependent kinase like 5 (CDKL5) also lead to clinical pictures resembling RTT.
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- Makale [92797]