A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE
GENETIC COUNSELING, cilt.26, sa.4, ss.387-392, 2015 (SCI-Expanded)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 26 Sayı: 4
- Basım Tarihi: 2015
- Dergi Adı: GENETIC COUNSELING
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.387-392
- İstanbul Üniversitesi Adresli: Evet
Özet
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.