Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation

作者：Al Yahyaee Said Ali^*; Al Kindi Mohammed; De Jonghe Peter; Al Asmi Abdulah; Al Futaisi Amna; De Vriendt Els; Deconinck Tine; Chand Pratap

来源：Journal of Child Neurology, 2013, 28(11): 1467-1473.

DOI：10.1177/0883073812463610

• gait disorder
• ataxia
• nystagmus
• gap junction protein
• Pelizaeus-Merzbacher

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.

• 出版日期2013-11