Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: Evidence for myelin basic protein haploinsufficiency

C. T. Gay, L. J. Hardies, R. A. Rauch, Jack L Lancaster, R. Plaetke, B. R. DuPont, Jannine D Cody, J. E. Cornell, R. C. Herndon, P. D. Ghidoni, J. M. Schiff, C. I. Kaye, Robin J Leach, Peter T Fox

Research output: Contribution to journalArticle

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Abstract

Magnetic resonance imaging (MRI) and MRI relaxometry were used to investigate disturbed brain myelination in 18q- syndrome, a disorder characterized by mental retardation, dysmorphic features, and growth failure. T1-weighted and dual spin-echo T2-weighted MR images were obtained, and T1 and T2 parametric image maps were created for 20 patients and 12 controls. MRI demonstrated abnormal brain white matter in all patients. White matter T1 and T2 relaxation times were significantly prolonged in patients compared to controls at all ages studied, suggesting incomplete myelination. Chromosome analysis using fluorescence in situ hybridization techniques showed that all patients with abnormal MRI scans and prolonged white matter T1 and T2 relaxation times were missing one copy of the myelin basic protein (MBP) gene. The one patient with normal-appearing white matter and normal white matter T1 and T2 relaxation times possessed two copies of the MBP gene. MRI and molecular genetic data suggest that incomplete cerebral myelination in 18q- is associated with haploinsufficiency of the gene for MBP.

Original languageEnglish (US)
Pages (from-to)422-431
Number of pages10
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume74
Issue number4
DOIs
StatePublished - 1997

Fingerprint

Haploinsufficiency
Myelin Basic Protein
Magnetic Resonance Imaging
Genes
Brain
Fluorescence In Situ Hybridization
Intellectual Disability
Molecular Biology
Chromosomes
White Matter
Chromosome 18 deletion syndrome
Growth

Keywords

  • 18q- syndrome
  • Delayed myelination
  • Myelin basic protein
  • White matter

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome : Evidence for myelin basic protein haploinsufficiency. / Gay, C. T.; Hardies, L. J.; Rauch, R. A.; Lancaster, Jack L; Plaetke, R.; DuPont, B. R.; Cody, Jannine D; Cornell, J. E.; Herndon, R. C.; Ghidoni, P. D.; Schiff, J. M.; Kaye, C. I.; Leach, Robin J; Fox, Peter T.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 74, No. 4, 1997, p. 422-431.

Research output: Contribution to journalArticle

Gay, C. T. ; Hardies, L. J. ; Rauch, R. A. ; Lancaster, Jack L ; Plaetke, R. ; DuPont, B. R. ; Cody, Jannine D ; Cornell, J. E. ; Herndon, R. C. ; Ghidoni, P. D. ; Schiff, J. M. ; Kaye, C. I. ; Leach, Robin J ; Fox, Peter T. / Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome : Evidence for myelin basic protein haploinsufficiency. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 1997 ; Vol. 74, No. 4. pp. 422-431.
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