STRs database » PABPN1 locus
Gene PABPN1
Location Coding in 14q11.2
Reference region chr14:23321472-23321490 (hg38)
chr14:23790681-23790699 (hg19)
Repeat unit GCG
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

Oculopharyngeal muscular dystrophy (OPMD) is a muscle disease which is caused by short trinucleotide (GCG) expansions in the coding region of 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).

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

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Oculopharyngeal muscular dystrophy (OPMD) Adult Autosomal dominant or Autosomal recessive 6 - ≥7