engleski

Severe form of oculopharyngeal muscular dystrophy in a Croatian family with compound heterozygote forthe (GCG)8 mutation and (GCG)7 allele in PABP2 gene

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with worldwide dstribution. Brais et al.(1998) identified the genetic basis of the condition as a stable trinucleotide repeat expansion in PABP2 gene, in which (GCG)6 is the normal repeat length. More severe phenotypes were observed in compound heterozygotes for the (GCG)9 mutation and a (GCG)7 allele that is found in 2% of the population, whereas homozygosity for the (GCG)7 allele led to autosomal recessive OPMD. We report a family in which the proband, a 60-year-old woman had characteristic progressive eyelid dropping since the age of 48 years. Mild dysphagia, hardly noticed ophtalmoplagia, and severe proximal limb girdle weakness started around the age of 56 when she was hospitalized and found to have myogenic pattern of EMG, high serum levels of creatine kinase and stenocardia. Some years later DNA analysis confirmed the diagnosis of OPMD finding her compound heterozygote for (GCG)8 mutation and (GCG)7 allele of PABP2 gene. Proband's 81-year-old mother had complete left ptosis apparently because of blindness due to cataracte and glaucoma. Despite lordotic posture and fatigue after physical work, she had no muscle weakness, Gowers' sign was negative, serum CK normal and apparently she had no dysphagia. Molecular analysis detected one normal (GCG)6 allele and the(GCG)7 polymorphism that can act either as a modifier of a dominant phenotype or as a recessive mutation

Oculopharyngeal muscular dystrophy; (GCG)7 ( GCG)8; Phenotype

6th WMS Congress: Poster Discussion Session 2