Molecular Prenatal Diagnosis of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Child from Southwest of Iran

Overview

Journal Clin Case Rep

Date 2015 Mar 14

PMID 25767710

Citations 1

Authors

Gholamreza Shariati

Mohammad Hamid

Alihossein Saberi

Behnaz Andashti

Hamid Galehdari

Affiliations

Soon will be listed here.

Abstract

Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

Citing Articles

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Passchier E, Bisseling Q, Helman G, van Spaendonk R, Simons C, Olsthoorn R Front Genet. 2024; 15:1352947.

PMID: 38487253 PMC: 10938252. DOI: 10.3389/fgene.2024.1352947.

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