Congenital muscular dystrophy caused by beta1,3-Nacetylgalactosaminyltransferase 2 gene mutation:Two case reports  

作　　者：Wen-Juan Wu Su-Zhen Sun Bao-Guang Li 

机构地区：[1]Department of Neurology,Hebei Children's Hospital,Hebei Children's Hospital Affiliated to Hebei Medical University,Shijiazhuang 050031,Hebei Province,China

出　　处：《World Journal of Clinical Cases》2022年第3期1056-1066,共11页世界临床病例杂志

摘　　要：BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotypes of CMD are broad,and there are only a few reports of CMD worldwide.CASE SUMMARY This report describes the cases of two children with CMD caused by B3GALNT2 gene mutation.The main manifestations of the two cases were abnormal walking posture,language development delay,and abnormal development of the white matter.Case 2 also had unreported symptoms of meningocele and giant arachnoid cyst.Both cases had compound heterozygous mutations of the B3GALNT2 gene,each containing a truncated mutation and a missense mutation,and three of the four loci had not been reported.Nineteen patients with CMD caused by B3GALNT2 gene mutation were found in the literature.Summary and analysis of the characteristics of CMD caused by B3GALNT2 gene mutation showed that 100%of the cases had nervous system involvement.Head magnetic resonance imaging often showed abnormal manifestations,and more than half of the children had eye and muscle involvement;some of the gene-related symptoms were self-healing.CONCLUSION B3GALNT2 gene can be used as one of the candidate genes for screening CMD,cognitive development retardation,epilepsy,and multiple brain developmental malformations in infants.

关 键 词：Beta1 3-N-acetylgalactosaminyltransferase 2 gene Congenital muscular dystrophy EPILEPSY Language development retardation AUTISM Case report 

分 类 号：R746.2[医药卫生—神经病学与精神病学]