Locus OPDM5 ABCD3

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 EMG¹.

Prevalence

Found in individuals of European, Japanese, and Chinese ancestry^2,3.

Age of Onset

Typical: 24-30; Range: 10-50⁴. Age of onset data is limited to 8 families.

HPO Terms

–

Association

Mendelian

Locus

hg19 chr1:94883977-94884000

hg38 chr1:94418421-94418444

t2t chr1:94266544-94266567

Details

Characterized in eight unrelated families which were used to establish benign (3-44) and pathogenic (118-694) ranges⁴.

Mechanism

Potentially over-expression of transcripts⁴.

Detection

RP-PCR has been used for detection [@pmid:39068203]. Short-read sequencing has significantly underestimated repeat count, while long-read sequencing has accurately resolved size [@pmid:39068203].

Year

2023⁴

Location in Gene

5' UTR

Gene Strand

Alleles

Ref. Motif

GCC

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

GCC

Pathogenic (gene)

CCG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interruption (gene)

–

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0025193

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

The Lancet. Neurology · 2024-07-01

pmid:38876750

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

Theerawat,Kumutpongpanich, Masashi,Ogasawara, Ayami,Ozaki, Hiroyuki,Ishiura, Shoji,Tsuji, Narihiro,Minami, Shinichiro,Hayashi, Satoru,Noguchi, Aritoshi,Iida, Ichizo,Nishino, Madoka,Mori-Yoshimura, Yasushi,Oya, Kenjiro,Ono, Toshio,Shimizu, Akihiro,Kawata, Shun,Shimohama, Keiko,Toyooka, Kaoru,Endo, Shuta,Toru, Oga,Sasaki, Kenji,Isahaya, Masanori P,Takahashi, Kazuo,Iwasa, Jun-Ichi,Kira, Tatsuya,Yamamoto, Michi,Kawamoto, Tadanori,Hamano, Kazuma,Sugie, Nobuyuki,Eura, Tomo,Shiota, Mizuho,Koide, Kanako,Sekiya, Hideaki,Kishi, Takuto,Hideyama, Shigeru,Kawai, Satoshi,Yanagimoto, Hiroyasu,Sato, Hajime,Arahata, Shigeo,Murayama, Kayoko,Saito, Hideo,Hara, Takashi,Kanda, Hiroshi,Yaguchi, Noboru,Imai, Yuichi,Kawagashira, Mitsuru,Sanada, Kazuki,Obara, Misako,Kaido, Minori,Furuta, Takashi,Kurashige, Wataru,Hara, Daisuke,Kuzume, Mamoru,Yamamoto, Jun,Tsugawa, Hitaru,Kishida, Naoki,Ishizuka, Kohei,Morimoto, Yukio,Tsuji, Atsuko,Tsuneyama, Atsuhiro,Matsuno, Ryo,Sasaki, Daigo,Tamakoshi, Erika,Abe, Shinichiro,Yamada, Akiyuki,Uzawa

JAMA neurology · 2021-07-01

pmid:34047774

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Andrea,Cortese, Sarah J,Beecroft, Stefano,Facchini, Riccardo,Curro, Macarena,Cabrera-Serrano, Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, Ben,Weisburd, Chiara,Folland, Gavin,Monahan, Carolin K,Scriba, Lein,Dofash, Mridul,Johari, Bianca R,Grosz, Melina,Ellis, Liam G,Fearnley, Rick,Tankard, Justin,Read, Ashirwad,Merve, Natalia,Dominik, Elisa,Vegezzi, Ricardo P,Schnekenberg, Gorka,Fernandez-Eulate, Marion,Masingue, Diane,Giovannini, Martin B,Delatycki, Elsdon,Storey, Mac,Gardner, David J,Amor, Garth,Nicholson, Steve,Vucic, Robert D,Henderson, Thomas,Robertson, Jason,Dyke, Vicki,Fabian, Frank,Mastaglia, Mark R,Davis, Marina,Kennerson, Ros,Quinlivan, Simon,Hammans, Arianna,Tucci, Melanie,Bahlo, Catriona A,McLean, Nigel G,Laing, Tanya,Stojkovic, Henry,Houlden, Michael G,Hanna, Ira W,Deveson, Paul J,Lockhart, Phillipa J,Lamont, Michael C,Fahey, Enrico,Bugiardini, Gianina,Ravenscroft

Nature communications · 2024-07-27

pmid:39068203

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)

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

Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy.

Chengcheng,Li, Jil A,Daw, Sara K,Pittman, Connor J,Maltby, Hidetoshi,Sakurai, Peter K,Todd, Conrad C,Weihl

Acta neuropathologica communications · 2026-03-06

pmid:41792844

CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.

Alessandro,Bertini, Stefano,Facchini, Ilaria,Quartesan, Riccardo,Currò, Ricardo Parolin,Schnekenberg, Natalia,Dominik, Gustavo,Alves, Lucia,Ferullo, Arianna,Tucci, Henry,Houlden, Mary M,Reilly, Andrea,Cortese

Journal of neurology, neurosurgery, and psychiatry · 2026-05-14

pmid:40645757