Pelizaeus-Merzbacher-like disease in a family with variable phenotype and a novel splicing GJC2 mutation

Said Ali Al-Yahyaee, Mohammed Al-Kindi, Peter De Jonghe, Abdulah Al-Asmi, Amna Al-Futaisi, Els De Vriendt, Tine Deconinck, Pratap Chand

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5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1467-1473
Number of pages7
JournalJournal of Child Neurology
Volume28
Issue number11
DOIs
Publication statusPublished - Nov 2013

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Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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