|
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
| |
|
DOI
|
|
|
|
10.1177/0883073812463610
| |
|
Volume/pages
|
|
|
|
28
:11
(2013)
, p. 1467-1473
| |
|
ISI
|
|
|
|
000325806200017
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|