A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics

Clara Maria Schutte, Cecelia M Dorfling, Riaan van Coller, Engela M Honey, Elizabeth Jansen van Rensburg


Autosomal dominantly inherited oculopharyngeal muscular dystrophy (OPMD) is caused by a trinucleotide repeat expansion in exon 1 of the polyadenylate binding protein nuclear 1 (PABPN1) gene on chromosome 14q. A large family with OPMD was recently identified in Pretoria, South Africa (SA). Molecular studies revealed a (GCG)11(GCA)3GCG or (GCN)15 mutant allele. The (GCN)15 mutation detected in this family has been described previously in families from Uruguay and Mexico as a founder effect. To our knowledge, this is the first report of an SA Afrikaner family with molecularly confirmed OPMD. The proband, a 64-year-old woman, presented to the neurology outpatient department at Steve Biko Academic Hospital, Pretoria. A sibship of 18 individuals was identified, of whom eight had OPMD. Four patients were interviewed and examined clinically, and electromyographic studies were performed. Molecular analysis of the PABPN1 gene was performed by polymerase chain reaction amplification and direct sequencing of exon 1 in three of the patients. Patients presented with ptosis, external ophthalmoplegia, dysphagia, dysarthria and mild proximal weakness. High foot arches and absent ankle reflexes raised the possibility of peripheral neuropathy, but electromyography showed only mildly low sensory amplitudes, and myopathic units in two patients.

Authors' affiliations

Clara Maria Schutte, Department of Neurology in the Faculty of Health Sciences, University of Pretoria, South Africa

Cecelia M Dorfling, Department of Genetics, Faculty of Health Sciences, University of Pretoria. South Africa

Riaan van Coller, Private practice; Department of Neurology, University of Pretoria, South Africa

Engela M Honey, Department of Genetics, University of Pretoria, South Africa

Elizabeth Jansen van Rensburg, Department of Genetics, Faculty of Health Sciences, University of Pretoria, South Africa

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Oculopharyngeal muscular dystrophy; Genetic characteristics; South Africa; (GCG)11(GCA)3GCG or (GCN)15 mutation

Cite this article

South African Medical Journal 2015;105(7):540-543. DOI:10.7196/SAMJnew.7880

Article History

Date submitted: 2015-09-21
Date published: 2015-09-21

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