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 MLC 1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).