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

Thumbnail Image

Departments

Organizational Unit

School / College / Institute

Organizational Unit
SCHOOL OF MEDICINE
Upper Org Unit

Program

KU Authors

Co-Authors

Cortese, Andrea
Beecroft, Sarah J.
Facchini, Stefano
Curro, Riccardo
Cabrera-Serrano, Macarena
Stevanovski, Igor
Chintalaphani, Sanjog R.
Gamaarachchi, Hasindu
Weisburd, Ben
Folland, Chiara

Publication Date

Language

Embargo Status

Journal Title

Journal ISSN

Volume Title

Alternative Title

Abstract

Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG center dot CCG repeat expansion in four different genes were identified in OPDM individuals in Asian populations. None of these have been found in affected individuals of non-Asian ancestry. In this study we describe the identification of CCG expansions in ABCD3, ranging from 118 to 694 repeats, in 35 affected individuals across eight unrelated OPDM families of European ancestry. ABCD3 transcript appears upregulated in fibroblasts and skeletal muscle from OPDM individuals, suggesting a potential role of over-expression of CCG repeat containing ABCD3 transcript in progressive skeletal muscle degeneration. The study provides further evidence of the role of non-coding repeat expansions in unsolved neuromuscular diseases and strengthens the association between the CGG center dot CCG repeat motif and a specific pattern of muscle weakness.

Source

Publisher

Nature Portfolio

Subject

Neurodegenerative diseases, Huntington's disease

Citation

Has Part

Source

Nature Communications

Book Series Title

Edition

DOI

10.1038/s41467-024-49950-2

item.page.datauri

Link

Rights

 

Copyrights Note

Endorsement

Review

Supplemented By

Referenced By

3

Views

5

Downloads

View PlumX Details