Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran

Gholamreza Shariati; Mohammad Hamid; Alihossein Saberi; Behnaz Andashti; Hamid Galehdari

doi:10.1002/ccr3.168

Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran

Clin Case Rep. 2015 Feb;3(2):114-7. doi: 10.1002/ccr3.168. Epub 2014 Nov 26.

Authors

Gholamreza Shariati¹, Mohammad Hamid², Alihossein Saberi³, Behnaz Andashti⁴, Hamid Galehdari⁴

Affiliations

¹ Narges genetic & PND Laboratory, Kianpars East Mihan street, Ahvaz, Iran.
² Department of Biotechnology, Pasteur Institute Tehran, Iran.
³ Department of Genetics, Medical School of Ahvaz Jundishapur University Ahvaz, Iran.
⁴ Department of Genetics, Shahid Chamran University Ahvaz, Iran.

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).

Keywords: Iranian; MLC1 gene; leukodystrophy; novel mutation.

Publication types

Case Reports