STRs database » PABPN1 locus

Overview of repeats

Oculopharyngeal muscular dystrophy (OPMD) is a muscle disease which is caused by short trinucleotide (GCG) expansions in the coding region of the PABPN1 gene as described by Brais and colleagues. They showed that normal individuals carry 6 repeats of GCG in the allele, but 2% of the population has also alleles with 7 repeats (Brais et al. (1998)).
Affected subjects have 7-13 repeats, however, the pathogenic repeat length usually ranges from 8 to 13 repeats which leads to autosomal dominant disease. It was found that homozygous 7 repeat alleles caused the disease in autosomal recessive manner (Brais et al. (1998)).

In a cohort of 123 patients from the Canary Islands, Alonso-Pérez et al. (2022) reported that nearly 95% carried a (GCN)15 allele. Ptosis was the most frequent initial symptom, and progression was milder than in the European comparison cohort. That study reported the full GCN-encoded alanine tract, whereas the original six-GCG description above refers to the variable GCG component.

→ View STRipy's population-wide repeat data for PABPN1 locus