A rare missense mutation, c.910A>G (p.K304E), of the MECP2 gene in a Thai girl with classical rett syndrome.

Rett syndrome is a severe X-linked dominant neurological disorder affecting girls almost exclusively. According to RettBASE, several common and rare mutations have been reported. Some rare variants have no clinical description and have not been categorized as polymorphism or mutation. Here, we report a rare missense, c.910A>G (p.K304E), in a 10-year-old Thai girl with classical RTT based on clinical diagnosis. Only normal A alleles were found in her parents and 500 control chromosomes. This variant has been previously reported in 2 cases with unknown clinical features and uncertain mutation/polymorphism status. Thus we confirmed that c.910A>G (p.K304E) is likely to be a rare mutation causing RTT.

Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital.

Methylation specific PCR (MS-PCR) is a technology for a sensitive detection of methylation in the gene. This assay was developed for diagnosis of methylation-related diseases including fragile X syndrome (FXS), the most common X-linked mental retardation caused by a CGG trinucleotide repeat expansion. Affected individuals (full mutation, FM) have CGG greater than 200 repeats, while normal individuals and premutation (PM) carriers have 6-54 and 55-200 repeats, respectively. Only FM individuals are correlated with methylation of the gene. The authors tested this assay on known 35 DNA samples (15 normal, 2 PM and 18 FM) and a prospective study of 60 males referred for FXS screening in Songklanagarind hospital. In addition, the authors tested on 2 prenatal cases. All results were corresponded to PCR for CGG repeats and/ or Southern blot analysis. The authors concluded that MS-PCR provides an accurate method for methylation detection of FXS.

Clinical abnormalities, intervention program, and school attendance of Down syndrome children in southern Thailand.

BACKGROUND: Down syndrome is the most common chromosomal abnormality with an incidence of 1:700 livebirths. In southern Thailand, most Down syndrome patients are referred to Songklanagarind Hospital for surgical, medical treatment and/or stimulation intervention. OBJECTIVE: To study the clinical features and school attendance of Down syndrome children. MATERIAL AND METHOD: A total of 295 Down syndrome children attended Songklanagarind Hospital. The clinical features of Down syndrome, percentage of children receiving the stimulation intervention program, and attending school were studied. RESULTS: Congenital heart disease was found in 38.6%, gastrointestinal anomalies 16.9%, hematologic malignancy 6.1%, and thyroid disorders 11.4%. The mortality rate of Down syndrome children was 13.2%. Most children (65.6%) received the early stimulation, but only 38.9% attended the speech intervention program within the first 2 years of life. Of the total 109 Down syndrome children aged over 5 years that are still being followed, only 74 (67.9%) attended school. The school attendance was correlated with the family income, but not correlated with the level of maternal or paternal education. CONCLUSION : Congenital heart disease and gastrointestinal anomalies are commonly found in Down syndrome children. Most children received an early intervention program, but only 38.9% received speech intervention. In children aged >5 years, only 68% attended school, and school attendance was correlated with the family income.