Title
Pelizaeus-Merzbacherlike disease in a family with variable phenotype and a novel splicing **GJC2** mutation
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Littleton, Mass. ,
Subject
Biology
Human medicine
Source (journal)
Journal of child neurology. - Littleton, Mass.
Volume/pages
28(2013) :11 , p. 1467-1473
ISSN
0883-0738
ISI
000325806200017
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
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