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.
authors.affiliation: 1College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
authors.forename: Said Ali
authors.initials: SA
authors.lastname: Al-Yahyaee
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Kindi
authors.forename: Peter De
authors.initials: PD
authors.lastname: Jonghe
authors.forename: Abdulah
authors.initials: A
authors.lastname: Al-Asmi
authors.forename: Amna
authors.initials: A
authors.lastname: Al-Futaisi
authors.forename: Els De
authors.initials: ED
authors.lastname: Vriendt
authors.forename: Tine
authors.initials: T
authors.lastname: Deconinck
authors.forename: Pratap
authors.initials: P
authors.lastname: Chand
keywords: Pelizaeus-Merzbacher; ataxia; gait disorder; gap junction protein; nystagmus