Locus OPDM TBC1D7

This is a newly proposed locus for OPDM, only having been reported in one paper¹. Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG².

Prevalence

Found in 3 families (7 total patients) of European ancestry¹.

Age of Onset

2nd to 6th decade (3/5 patients had onset in 2nd decade). Referred to as adult onset, so assuming high end of 2nd decade¹

HPO Terms

–

Association

Mendelian

Locus

hg19 chr6:13328708-13328835

hg38 chr6:13328476-13328603

t2t chr6:13201716-13201843

Details

Benign range (0-60) estimated from population data and pathogenic range (83-148) gathered from 7 patients from 3 unrelated families¹. The hg38 coordinates reported in the paper (chr6:13328476-13328603)¹contain multiple annotated TRs and interruptions, so the true coordinates are likely more narrow.

Mechanism

GoF

Gain of Function apparent, but mechanism is unknown. Methylation and RAN translation have been oberserved¹.

Detection

Year

2026¹

Location in Gene

5' UTR

Gene Strand

Alleles

Ref. Motif

GCC

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

GCC

Pathogenic (gene)

CGG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interruption (gene)

–

References

Direct supporting references for info on this page.

A 5' UTR CCG expansion in

Liedewei,Van de Vondel, Riccardo,Curro, Stefano,Facchini, Isaac R L,Xu, Jonathan,De Winter, Ilaria,Quartesan, Alice,Monticelli, Alicia,Alonso-Jimenez, Willem,De Ridder, Alessandro,Bertini, Gustavo,Alves, Francesca,Pizzuto, Hermione,Ugolini, David,Pellerin, Tim,De Pooter, Ashirwad,Merve, Pedro,Machado, Lydia,Sagath, Kornelia,Neveling, Alexander,Hoischen, Michael G,Hanna, Robert D S,Pitceathly, Henry,Houlden, Arianna,Tucci, Enrico,Bugiardini, Stefen,Brady, Mark,Roberts, Matt C,Danzi, Stephan,Züchner, Jonathan,Baets, Andrea,Cortese

medRxiv : the preprint server for health sciences · 2026-04-01

pmid:41959811

Ontology Lookup Service (OLS)

mondo:0025193

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)