Publication
Title
Pelizaeus-Merzbacherlike disease in a family with variable phenotype and a novel splicing **GJC2** mutation
Author
Abstract
Pelizaeus-Merzbacherlike disease is an autosomal recessive disorder characterized by neonatal nystagmus, ataxia, progressive spasticity, and development delay and is rarely caused by GJC2 mutations. We report 7 patients from a large consanguineous family who had variable severity of Pelizaeus-Merzbacherlike disease. The 3 youngest of branch A were bedridden by their first year because of permanent scissoring of their legs and had severe frontal lobe epilepsy. The single patient from branch B was the least affected, being able to walk until 12 years of age and had no epilepsy. Brain magnetic resonance imaging (MRI) showed hypomyelination. The patients had a novel canonical splicing GJC2 c.-20+1G>C mutation with a predicted loss of the coding connexin 47 protein. The exceptionally large number of patients in this unique family enabled to describe the intrafamilial variability of Pelizaeus-Merzbacherlike disease. The predicted functional loss of connexin 47 might be associated with a severe form of Pelizaeus-Merzbacherlike disease.
Language
English
Source (journal)
Journal of child neurology. - Littleton, Mass.
Publication
Littleton, Mass. : 2013
ISSN
0883-0738
Volume/pages
28:11(2013), p. 1467-1473
ISI
000325806200017
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 16.02.2013
Last edited 07.07.2017
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