title: Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.
abstract: Leukoencephalopathies are heterogeneous entities with white matter abnormalities. Mutations of the gene encoding hepatic and glial cell adhesion molecule (HEPACAM) located on 11q24 are related to one of the leukoencephalopathies: megalencephalic leukoencephalopathy with subcortical cysts type 2 (MLC2). Genomic copy number aberrations were analyzed by microarray comparative hybridization for two patients. One patient who presented with abnormal intensity of the white matter had been previously been diagnosed with the typical genotype and phenotype of Jacobsen syndrome due to an 11q subtelomere deletion, which was further characterized here. In a second patient who exhibited the characteristic finding of leukoencephalopathy, an interstitial deletion of 11q24 was also identified. HEPACAM was involved in both deletions. We therefore suggest that haploinsufficiency of HEPACAM, a gene previously associated with the features of MLC2 and located on the overlapping deletion region between the two patients, might be related to the observed white matter abnormalities.
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address: yamamoto.toshiyuki@twmu.ac.jp.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Shino
authors.initials: S
authors.lastname: Shimada
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Sangu
authors.affiliation: Department of Clinical Genetics, Kurashiki Central Hospital, Kurashiki, Japan.
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Ninomiya
authors.affiliation: Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Masaya
authors.initials: M
authors.lastname: Kubota
mesh_terms: D015815:Cell Adhesion Molecules / Q000235:genetics*; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D056915:DNA Copy Number Variations; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics
chemical_list: D015815:Cell Adhesion Molecules; D018797:Cell Cycle Proteins; C487620:HEPACAM protein, human; D008565:Membrane Proteins; D011506:Proteins
keywords: 11q24; Hepatic and glial cell adhesion molecule (HEPACAM); Jacobsen syndrome; Megalencephalic leukoencephalopathy with subcortical cysts type 2 (MLC2); Microdeletion