A Case of Mental Retardation,Autosomal Dominant 53 Related to CAM K2A Gene Variant
HAO Chong-yang
LIU Wan-chao
JIN Zi-he
LIU Li-ying
WANG Mei-ling
WANG Rong
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 CA MK2A 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.
Keywords：Developmental disabilitiesEpilepsyIntellectual disabilityGenesGenetic variationMental retardationautosomal dominant 53
Publication Date：2025-05-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 201-203 )