title: Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of 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).
authors.affiliation: Narges genetic & PND Laboratory, Kianpars East Mihan street, Ahvaz, Iran.
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Shariati
authors.affiliation: Department of Biotechnology, Pasteur Institute Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Hamid
authors.affiliation: Department of Genetics, Medical School of Ahvaz Jundishapur University Ahvaz, Iran.
authors.forename: Alihossein
authors.initials: A
authors.lastname: Saberi
authors.affiliation: Department of Genetics, Shahid Chamran University Ahvaz, Iran.
authors.forename: Behnaz
authors.initials: B
authors.lastname: Andashti
authors.affiliation: Department of Genetics, Shahid Chamran University Ahvaz, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Galehdari
keywords: Iranian; MLC1 gene; leukodystrophy; novel mutation