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...

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Bibliographic Details
Published in:European journal of medical genetics 2015-09, Vol.58 (9), p.492-496
Main Authors: Yamamoto, Toshiyuki, Shimada, Shino, Shimojima, Keiko, Sangu, Noriko, Ninomiya, Shinsuke, Kubota, Masaya
Format: Article
Language:English
Subjects:
11q24
Cell Adhesion Molecules - genetics
Child, Preschool
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 11 - genetics
DNA Copy Number Variations
Female
Genotype
Hepatic and glial cell adhesion molecule (HEPACAM)
Humans
Infant
Jacobsen syndrome
Leukoencephalopathies - diagnosis
Leukoencephalopathies - genetics
Male
Medical Education
Megalencephalic leukoencephalopathy with subcortical cysts type 2 (MLC2)
Megalencephaly - diagnosis
Megalencephaly - genetics
Membrane Proteins - genetics
Membrane Proteins - metabolism
Microdeletion
Phenotype
Proteins - genetics
Proteins - metabolism
Psychomotor Disorders - diagnosis
Psychomotor Disorders - genetics
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2015.06.008