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Pelizaeus-Merzbacherlike disease in a family with variable phenotype and a novel splicing **GJC2** mutation
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| Abstract |
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| 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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English
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Journal of child neurology. - Littleton, Mass. | |
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Littleton, Mass. : 2013
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0883-0738
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28:11(2013), p. 1467-1473
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000325806200017
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