Analysis of clinical characteristics and gene mutations of megalencephalic leukoencephalopathy with subcortical cysts in a family
10.3760/cma.j.issn.2095-428X.2018.16.015
- VernacularTitle:巨脑性白质脑病伴皮质下囊肿一家系临床特征及基因突变分析
- Author:
Yanli ZHU
1
;
Xiaoyin PENG
;
Liwen WANG
;
Xiaoli YI
;
Jian YANG
Author Information
1. 首都儿科研究所附属儿童医院神经内科
- Keywords:
Megalencephalic leukoencephalopathy with subcortical cysts;
MLC1 gene;
Mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(16):1263-1266
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the clinical characteristics and genetic variation of megalencephalic leu-koencephalopathy with subcortical cysts(MCL),then to explore the genetic characteristics so as to help families by pro-viding genetic counseling. Methods The clinical data of the children and their family members were collected,and the peripheral blood DNA of the children and family members were extracted. Then,the MLC1 gene mutation in the children was detected by using the target sequence capture high-throughput sequencing technology and Sanger sequencing tech-nology. Results (1)MCL often presented abnormal head circumference in infants as the first symptom. The main clini-cal manifestations were hypoevolutism in motor development,retrogression of early school age,then the movement disor-der progressed and finally paralyzed;epilepsy was common in early childhood;head magnetic resonance imaging showed white matter in bilateral cerebral hemisphere diffusing abnormal signal with temporal lobe cystic change in the early stage,and then showed brain atrophy. (2)The gene results showed that the 2 girls with MLC had both c. 368C >T (p. Thr123Ile)and c. 353C > T (p. Thr118Met)complex heterozygous variation,which existed in the MLC1 gene. The girls′ father and a sister carried c. 368C > T (p. Thr123Ile),while the mother carried c. 353C > T (p. Thr118Met) heterozygous variation,all of whom were normal phenotypes. Conclusions MCL is one cause of hypoevolutism in motor development in children and abnormal head circumference of infants is usually the first symptom. The MLC1 gene c. 368C> T(p. Thr123Ile)is a pathogenic mutation for MLC,and may be another new pa-thogenic mutation.
