Curation OPMD PABPN1

Canary Islands cohort of 123 genetically diagnosed OPMD patients; 113/120 analyzed patients (94.2%) carried a heterozygous PABPN1 (GCN)15 expanded allele, with typical OPMD features including ptosis, dysphagia, and later proximal weakness.

PMID 28011929: French cohort of 354 unrelated index cases showed pathogenic PABPN1 (GCN)11–17 alleles and a correlation between expansion size and age at diagnosis/severity, with homozygous patients more severely affected. PMID 9392020: linkage study supports the chromosome 14 OPMD locus but is gene/locus-mapping evidence, not repeat allele size-specific.

In 23 Bukhara Jewish patients from 8 unrelated families, all carried the PABP2/PABPN1 (GCG)9 mutation and shared a four-marker haplotype, supporting segregation of a shared founder mutation in this population.

Linkage analysis in 11 large French Canadian families with OPMD identified a 1.5cM region around D14S990 that includes PABPN1 (LOD = 26.05).

French diagnostic cohort of 354 unrelated PABPN1 expansion-positive index cases characterized pathogenic (GCN)11–17 alleles; 200 control chromosomes had no (GCN)11 allele, supporting enrichment/rarity of expanded alleles in affected individuals versus controls.

Gene-level, not repeat-locus-specific: PABP2 (now known as PABPN1) is a nuclear poly(A)-binding protein involved in mRNA polyadenylation; the paper proposed that expanded polyalanine PABP2 may accumulate as nuclear filament inclusions.