Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness:A case report  

作　　者：Feng-Juan Ding Gui-Zhen Lyu Victor Wei Zhang Hua Jin 

机构地区：[1]Prenatal Diagnosis Center,Jinan Maternal and Child Health Hospital,Jinan 250001,Shandong Province,China [2]AmCare Genomics lab(Guangzhou),Guangzhou 510300,Guangdong Province,China [3]Department of Human and Molecular Genetics,Baylor College of Medicine,Houston,TX 77001,United States

出　　处：《World Journal of Clinical Cases》2021年第30期9302-9309,共8页世界临床病例杂志

基　　金：Supported by Jinan Science and Technology Project,No.201805014。

摘　　要：BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20(CMT20),mental retardation 13(MRD13)and spinal muscular atrophy with lower extremity predominant 1(SMA-LED).The incidence of the disease is low,and it is difficult to diagnose,especially in children.Here,we report a case of DYNC1H1 gene mutation and review the related literature to improve the pediatrician’s understanding of DYNC1H1 gene-related disease to make an early correct diagnosis and provide better services for children.CASE SUMMARY A 4-mo-old Chinese female child with adducted thumbs,high arch feet,and epileptic seizure presented slow response,delayed development,and low limb muscle strength.Electroencephalogram showed abnormal waves,a large number of multifocal sharp waves,sharp slow waves,and multiple spasms with a series of attacks.High-throughput sequencing and Sanger sequencing identified a heterozygous mutation,c.5885 G>A(p.R1962H),in the DYNC1H1 gene(NM 001376)of the proband,which was not identified in her parents.Combined with the clinical manifestations and pedigree of this family,this mutation is likely pathogenic based on the American Academy of Medical Genetics and Genomics guidelines.The child was followed when she was 1 year and 2 mo old.The magnetic resonance imaging result was consistent with the findings of white matter myelinated dysplasia and congenital giant gyrus.The extensive neurogenic damage to the extremities was considered,as the results of electromyography showed that the motor conduction velocity and sensory conduction of the nerves of the extremities were not abnormal,and the degree of fit of the children with severe contraction was poor.At present,the child is 80 cm in length and 9 kg in weight,with slender limbs and low muscle strength,and still does not raise

关 键 词：DYNC1H1 Mental retardation Muscle weakness Medical exome sequencing Case report 

分 类 号：R741[医药卫生—神经病学与精神病学]