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Genetics and Genomics

Segmental Uniparental Isodisomy Causing an “Inside-to-Outside” Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1

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JAMA Neurology

Published Online: May 22, 2023

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Article Information and Disclosures

Roula Ghaoui, BMBS, PhD^1,2,3;

Samuel Curtis, BSc³;

Karin S. Kassahn, BSc(Hons), PhD^2,3

Author Affiliations

¹Department of Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia
²Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia
³Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia

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A 52-year-old woman presented to the neuromuscular clinic for assessment of limb-girdle weakness. She had been using a walker for the last 2½ years and occasionally used a wheelchair. She had nonconsanguineous parents, 4 unaffected relatives, and no family history of neuromuscular disease. She achieved normal developmental milestones, had learning difficulties at primary school, and was “clumsy” at sports. In her early 20s, she began developing slowly progressive lower limb more so than upper limb weakness.

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Article Information

Corresponding Author: Roula Ghaoui, BMBS, PhD, Department of Neurology, Royal Adelaide Hospital, University of Adelaide, Adelaide, SA 5000, Australia (roula.ghaoui@sa.gov.au).

Published Online: May 22, 2023. doi:10.1001/jamaneurol.2023.1286

Conflict of Interest Disclosures: Dr Ghaoui reported receiving grants from the National Health and Medical Research Council of Australia (grant APP1194633) during the conduct of the study. Dr Kassahn reported receiving grants for other related research from the Medical Research Future Fund, project pricing for reagents from Illumina, and nonfinancial administrative support from Australian Genomics outside the submitted work. No other disclosures were reported.

Additional Contributions: We acknowledge the following for their contribution to the article: Peer Arts, PhD, and Milena Babic, Bachelor of Medical and Pharmaceutical Biotechnology (Hons) (both, Centre for Cancer Biology), and Lucas DeJong, Bachelor of Laboratory Medicine (SA Pathology), acquired data; Dr Arts, Abhijit Kulkarni, MBBS, MD, DNB (Centre for Cancer Biology), and Mr DeJong provided data analysis and interpretation; and Hamish Scott, PhD (Centre for Cancer Biology), contributed to the design and conduct of the study. These individuals were not financially compensated for their contribution. We thank the patient for granting permission to publish this information.

References

Servián-Morilla E , Cabrera-Serrano M , Johnson K , et al. POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathol. 2020;139(3):565-582. doi:10.1007/s00401-019-02117-6 PubMed Google Scholar Crossref

AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
1.00 credit toward the CME [and Self-Assessment requirements] of the American Board of Surgery’s Continuous Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.