关键词: 发育障碍, 癫痫, 智力障碍, 基因, 遗传变异, 常染色体显性智力发育障碍53型

Abstract:

CAMK2A gene variation can cause the mental retardation, autosomal dominant 53 (MRD53), which can be clinically manifested as epilepsy, developmental retardation, intellectual impairment and behavioral abnormalities. There are few reports at home and abroad. We report a case of MRD53 child who was treated for epileptic seizures and behavioral abnormalities. Gene sequencing indicated a missense mutation of the CAMK2A gene c.775C>T(p.Arg259Cys). The mutation site was chromosome 5, and exon 11 changed from cytosine (C) to thymine (T). It caused a change at the amino 259 site of the coded protein from arginine to cysteine [p.R259C(p.Arg259Cys)(NM_001363989)]. Neither of the parents has any mutation. This mutation is a new mutation, which may lead to MRD53. Currently, there is no specific drug treatment for MRD53. The symptomatic supportive treatment is the primary method, including strict control of diet, mood and medication, and paying attention to the cultivation of physical and mental health of children. Further research on the genetics, treatment and prognosis of this disease may be a key direction for future studies.

Key words: Developmental disabilities, Epilepsy, Intellectual disability, Genes, Genetic variation, Mental retardation, autosomal dominant 53