Abstract
BackgroundRett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6–18 months followed by a period of motor and vocal deterioration with stereotypic hand movements. Incidence of RTT is mostly due to de novo mutation in the MECP2 gene (methyl-CpG-binding protein 2).MethodsThe study assessed 27 female patients presented with classical RTT phenotype age range from 18 months to 48 months. Specialist carried out the clinical evaluation and diagnosis according to RTT diagnosis criteria. Blood samples from patients were then collected for genomic DNA extraction. We next performed MECP2 gene amplification and sequencing of the whole coding region to screen for mutations.ResultMECP2 mutation was found in 20 patients (74%) including: 2 missense, 4 nonsense, 6 frameshift and 2 deletion mutation. The study identified 14 pathogenic mutations which we found 4 mutation, to our knowledge and extensive search, not priory reported in any mutation database or publication: c.1384-1385DelGT, c.1205insT, c.717delC and c.1132_1207del77. High percentage of C > T (70%) in CpG sites mutation was found.ConclusionOur result reveals a high percentage of C > T mutation in CpG hot spot, which is more prone to modification and more likely to be detected in RTT as a disorder is strictly due to de novo mutations. The study is the first to identify the mutation spectrum of MECP2 gene in Vietnamese patients and also an important step toward better diagnosis and care for RTT patients in Vietnam.
Highlights
Rett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6–18 months followed by a period of motor and vocal deterioration with stereotypic hand movements
Our result reveals a high percentage of C > T mutation in CpG hot spot, which is more prone to modification and more likely to be detected in RTT as a disorder is strictly due to de novo mutations
Mutation analysis of the Methyl CpG binding protein 2 (MECP2) gene Mutation analysis was conducted in 27 female patients
Summary
Rett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6–18 months followed by a period of motor and vocal deterioration with stereotypic hand movements. Incidence of RTT is mostly due to de novo mutation in the MECP2 gene (methyl-CpG-binding protein 2). Rett syndrome (RTT; OMIM Entry #312750) is a neurodevelopmental disorder which is one of the main causes of neurological disability in children [1]. The classic clinical presentation of RTT is characterized by average psychomotor progression from birth until 6–18 months, and development halted followed by period of psychomotor deterioration [3, 4]. The most common cause of RTT is de novo mutations in the MECP2 gene (Methyl-CpG binding protein 2), located on the X chromosome (locus Xq28) [1]. The MECP2 gene consists of four exons and encode for the widely expressed methyl-CpG-binding protein 2 – member of the methyl-binding domain protein family
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