Abstract
Background: Oculopharyngeal muscular dystrophy (OPMD) produced by the (GCG)13 expansion mutation in the PABPN1 gene is frequent among Uzbek Jews in Israel. Objectives: To describe the phenotypic and genotypic features in fve Bulgarian Jewish patients, from different families, with autosomal dominant OPMD. methods: We performed clinical follow-up, electrodiagnostic tests and mutation detection. Blood samples were obtained after informed consent and DNA was extracted; measurement of GCG repeats in both PABPN1 alleles and sequencing of OPMD mutations were performed according to standard techniques. results: We identifed fve patients (four females), aged 58 to 71 years, with bilateral ptosis, dysphagia, dysphonia (n=3) and myopathic motor units by electromyography. In all patients we noticed proximal weakness of the upper limbs with winging scapulae in three of them. All cases shared the (GCG)13-(GCG)10 PABPN1 genotype. conclusions: OPMD among Bulgarian Jews is produced by a (GCG)13 expansion, identical to the mutation in Uzbek Jews and French Canadians. In addition to the classical neurological and neuro-ophthalmological features, early shoulder girdle weakness is common in Bulgarian Jewish patients; this is an unusual feature during the early stages of OPMD produced by the same mutation in other populations. We suggest that besides the disease-producing GCG expansion, additional ethnicity-related genetic factors may infuence the OPMD phenotype. OPMD is a rare disease, and the identifcation of fve affected families in the rather small Bulgarian Jewish community in Israel probably represents a new cluster; future haplotype studies may elucidate whether a founder effect occurred.
Original language | English |
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Pages (from-to) | 748-752 |
Number of pages | 5 |
Journal | Israel Medical Association Journal |
Volume | 15 |
Issue number | 12 |
State | Published - Dec 2013 |
Keywords
- Bulgarian jews
- Genetics
- Muscular dystrophy
- Oculopharyngeal
- Phenotype