Clinical phenotype and genetic analysis of one children with Rett syn-drome caused by MECP2 gene variats
The study investigates the clinical phenotype and genetic etiology of Rett syndrome caused by MECP2 gene variation.The genotypes and clinical phenotypes of a female child with Rett syndrome who was diagnosed with developmental retardation at the Affiliated Hospital of Guangdong Medical University were analyzed.The onset of the disease in infants was developmental delay,rigid hand movements,seizures,loss of skills and language,mental retardation and abnormal gait.Physical examination indicated small head circumference,and low muscle tone in limbs;Abnormal video electroencephalogram was detected,and gene detection indicated a new heterozygous mutation of MECP2 gene,which was missense mutation c.710C＞G(p.ro237Arg).For diagnosis of typical Rett syndrome,antiepileptic therapy with sodium valproate,lamotrigine,and physical stimulation interventions such as deep brain stimulation,and transcranial magnetic stimulation can alleviate the pathological phenotype of neurons in patients with Rett syndrome.Genetic testing is the most unique diagnostic basis for Rett syndrome.Early diagnosis and treatment of genetic testing can improve prognosis and provide important reference for genetic counseling and prenatal diagnosis.
万方数据
维普
