title: 6p25 microdeletion: white matter abnormalities in an adult patient.
abstract: We report on a 41-year-old woman of normal intelligence with a complicated past medical history including unilateral profound hearing loss, unilateral Axenfeld-Rieger anomaly, and leukoencephalopathy. She was referred to an adult neurology clinic because of a previous diagnosis of multiple sclerosis, which was non-responsive to multiple medications. Due to her complicated past medical history, the medical genetics service was consulted. She was found to have a chromosome 6p25.3-6p25.2 deletion on SNP array. This report highlights chromosome 6p subtelomeric deletions as a possible underlying cause for periventricular white matter abnormalities in an adult. It emphasizes the importance of genetic testing in an adult with leukoencephalopathy and congenital anomalies.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA. hvernon1@jhmi.edu
authors.forename: Hilary J
authors.initials: HJ
authors.lastname: Vernon
authors.forename: Aida
authors.initials: A
authors.lastname: Bytyci Telegrafi
authors.forename: Denise
authors.initials: D
authors.lastname: Batista
authors.forename: Margaret
authors.initials: M
authors.lastname: Owegi
authors.forename: Richard
authors.initials: R
authors.lastname: Leigh
mesh_terms: D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005124:Eye Abnormalities / Q000235:genetics*; D015785:Eye Diseases, Hereditary; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D012697:Serine Endopeptidases / Q000235:genetics
chemical_list: C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors; C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases