title: Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
abstract: Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. Five patients did not harbor mutations in MLC1, supporting the existence of at least one other MLC locus.
authors.affiliation: Unit of Molecular Medicine and Division of Pediatric Neurology, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Patrono
authors.forename: G
authors.initials: G
authors.lastname: Di Giacinto
authors.forename: E
authors.initials: E
authors.lastname: Eymard-Pierre
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: D
authors.initials: D
authors.lastname: Rodriguez
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: V
authors.initials: V
authors.lastname: Benigno
authors.forename: A
authors.initials: A
authors.lastname: Megarbané
authors.forename: B
authors.initials: B
authors.lastname: Tabarki
authors.forename: O
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: D000293:Adolescent; D000328:Adult; D000352:Africa, Northern; D020739:Brain Diseases, Metabolic, Inborn / Q000208:ethnology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003560:Cysts / Q000208:ethnology / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005602:France; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D014421:Turkey
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins