Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models

World Journal of Pediatrics : WJP
Zhen ShiJing-Min Wang

Abstract

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurological degenerative disorder caused by the mutations of MLC1 or GLIALCAM with autosomal recessive or autosomal dominant inheritance and a different prognosis, characterized by macrocephaly, delayed motor and cognitive development, and bilateral abnormal signals in cerebral white matter (WM) with or without cysts on magnetic resonance imaging (MRI). This study aimed to reveal the clinical and genetic features of MLC patients with GLIALCAM mutations and to explore the brain pathological characteristics and prognosis of mouse models with different modes of inheritance. Clinical information and peripheral venous blood were collected from six families. Genetic analysis was performed by Sanger sequencing of GLIALCAM. GlialcamArg92Trp/+ and GlialcamLys68Met/Thr132Asn mouse models were generated based on mutations from patients (c.274C>T(p.Arg92Trp) (c.203A>T(p.Lys68Met), and c.395C>A (p.Thr132Asn))). Brain pathologies of the mouse models at different time points were analyzed. Six patients were clinically diagnosed with MLC. Of the six patients, five (Pt1-Pt5) presented with a heterozygous mutation in GLIALCAM (c.274C>T(p.Arg92Trp) or c.275G>C(p.Arg92Pro)...Continue Reading

References

May 1, 1996·Pediatric Neurology·B S SinghalA A Biniwale
Jul 28, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Heidi L RehmUNKNOWN Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee
Dec 17, 2014·European Journal of Medical Genetics·Ariana KariminejadMarjo S van der Knaap
Jul 25, 2015·BMJ Case Reports·Ujjawal RoyGoutam Ganguly
Jun 9, 2016·Genome Biology·William McLarenFiona Cunningham
Apr 18, 2018·Neurology·Eline M C HamiltonUNKNOWN MLC Research Group

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Citations

Jan 22, 2020·Human Molecular Genetics·Xabier Elorza-VidalRaúl Estévez
Dec 18, 2020·Frontiers in Cellular Neuroscience·Dieuwke Maria de Waard, Marianna Bugiani
Feb 9, 2021·Frontiers in Cellular Neuroscience·Assumpció Bosch, Raúl Estévez

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Methods Mentioned

BETA
PCR

Software Mentioned

Polyphen2 taster
GERP
ImageJ
SIFT CADD
Glialcam
Polyphen2
SIFT
SPSS
Gfap
GraphPad Prism

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