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

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

6 اقتباسات (Scopus)

ملخص

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.

اللغة الأصليةEnglish
الصفحات (من إلى)1467-1473
عدد الصفحات7
دوريةJournal of Child Neurology
مستوى الصوت28
رقم الإصدار11
المعرِّفات الرقمية للأشياء
حالة النشرPublished - نوفمبر 2013

ASJC Scopus subject areas

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