@article{03143203b8944bbe9b9c9b193891836a,
title = "Pelizaeus-Merzbacher-like disease in a family with variable phenotype and a novel splicing GJC2 mutation",
abstract = "Pelizaeus-Merzbacher-like 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-Merzbacher-like 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-Merzbacher-like disease. The predicted functional loss of connexin 47 might be associated with a severe form of Pelizaeus-Merzbacher-like disease.",
keywords = "Pelizaeus-Merzbacher, ataxia, gait disorder, gap junction protein, nystagmus",
author = "Al-Yahyaee, {Said Ali} and Mohammed Al-Kindi and Jonghe, {Peter De} and Abdulah Al-Asmi and Amna Al-Futaisi and Vriendt, {Els De} and Tine Deconinck and Pratap Chand",
note = "Funding Information: The authors disclosed receipt of the following financial support for the research and/or authorship of this article: This work is supported in part by grant IG/MED/01/03 from Sultan Qaboos University and by a Methusalem Grant of the University of Antwerp, the Medical Foundation Queen Elisabeth and the Interuniversity Attraction Poles P6/43 Program of the Belgian Federal Science Policy Office. AYSA receives institutional support from Sultan Qaboos University for genetic research. AKMN declares no financial relationships. DJP, DVE, and DT received the following grants: European Science Foundation/Eurocores: Programme “Functional Genomics Variation in the Epilepsies” and “Genetics of Rare Epilepsy Syndromes”; Association Fran{\c c}aise Contre Les Myopathies: “Validation and Prognostic Value of Biomarkers in CMT1A”; and Fund for Scientific Research Flanders: “Molecular Genetics of Inherited Epilepsies.” AAA declares no funding sources. AFA declares no funding sources. CP has served as a consultant for and has received a research grant for a clinical trial from Teva Neuroscience. He is on the speaker bureau for Teva Neuroscience and Allergan. ",
year = "2013",
month = nov,
doi = "10.1177/0883073812463610",
language = "English",
volume = "28",
pages = "1467--1473",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "11",
}