Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.
CONCLUSIONS: Clinical and genetic characterization of patients with MLC and GLIALCAM mutations revealed a novel mutation, expanding the spectrum of GLIALCAM mutations. The first Glialcam mouse model with autosomal recessive inheritance and a new Glialcam mouse model with autosomal dominant inheritance were generated. The two mouse models with different modes of inheritance showed different degrees of brain pathological features, which were consistent with the patients' phenotype and further confirmed the pathogenicity of the corresponding mutations.
PMID: 31372844 [PubMed - as supplied by publisher]
Source: World Journal of Pediatrics : WJP - Category: Pediatrics Authors: Shi Z, Yan HF, Cao BB, Guo MM, Xie H, Gao K, Xiao JX, Yang YL, Xiong H, Gu Q, Li M, Wu Y, Jiang YW, Wang JM Tags: World J Pediatr Source Type: research