Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: PABPN1Included for overlapping phenotype
Sources: OtherCreated: 14 Apr 2023, 7:05 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
oculopharyngeal muscular dystrophy MONDO:0008116
Publications
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease (usually 5th or 6th decade of life) associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. It is most commonly an autosomal dominant condition but rarely recessive inheritance has been reported. It is caused by the abnormal expansion of the alanine-encoding (GCN)n trinucleotide repeat in the N-terminal domain of the gene (11–18 repeats in OPMD instead of the normal 10 repeats).
A coding triplet repeat usually causes this condition, which is not detectable using WES. However, a missense substitution, Gly12Aal occurs immediately 3-prime to the normal 10 alanine codon repeat sequence and generates a contiguous sequence of 13 alanine codons, which is causative of disease in the common triplet repeat expansion mutation.
NM_004643.3:c.4_6[X]
Expected gain of function mechanism of disease
Normal allele: (GCN)10 / Ala10
Autosomal recessive: (GCN)11/Ala11
Autosomal dominant: (GCN)12-17Created: 29 Mar 2022, 11:47 p.m. | Last Modified: 29 Mar 2022, 11:47 p.m.
Panel Version: 0.12282
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculopharyngeal muscular dystrophy - MIM#164300
Publications
Gene: pabpn1 has been classified as Green List (High Evidence).
Gene: pabpn1 has been classified as Green List (High Evidence).
gene: PABPN1 was added gene: PABPN1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: PABPN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PABPN1 were set to 19080757; 33805441; 16648376 Phenotypes for gene: PABPN1 were set to oculopharyngeal muscular dystrophy MONDO:0008116