. 2019 Nov;21(11):2512-2520.

doi: 10.1038/s41436-019-0544-8. Epub 2019 May 20.

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

Wei Liu¹, Sander Pajusalu^#^{2

3

4}, Nicole J Lake^#^{2

5}, Geyu Zhou¹, Nilah Ioannidis^{6

7}, Plavi Mittal^{6

8}, Nicholas E Johnson⁹, Conrad C Weihl¹⁰, Bradley A Williams⁶, Douglas E Albrecht⁶, Laura E Rufibach⁶, Monkol Lek¹¹

Affiliations

¹ Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.
² Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
³ Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
⁴ Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
⁵ Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
⁶ Jain Foundation, Seattle, WA, USA.
⁷ Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.
⁸ In-Depth Genomics, Bellevue, WA, USA.
⁹ Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
¹⁰ Department of Neurology, Washington University School of Medicine, St. Louis,, MO, USA.
¹¹ Department of Genetics, Yale School of Medicine, New Haven, CT, USA. monkol.lek@yale.edu.

^# Contributed equally.

PMID: 31105274
DOI: 10.1038/s41436-019-0544-8

Free article

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

Wei Liu et al. Genet Med. 2019 Nov.

Free article

. 2019 Nov;21(11):2512-2520.

doi: 10.1038/s41436-019-0544-8. Epub 2019 May 20.

Authors

Affiliations

¹ Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.
² Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
³ Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
⁴ Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
⁵ Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
⁶ Jain Foundation, Seattle, WA, USA.
⁷ Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.
⁸ In-Depth Genomics, Bellevue, WA, USA.
⁹ Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
¹⁰ Department of Neurology, Washington University School of Medicine, St. Louis,, MO, USA.
¹¹ Department of Genetics, Yale School of Medicine, New Haven, CT, USA. monkol.lek@yale.edu.

^# Contributed equally.

PMID: 31105274
DOI: 10.1038/s41436-019-0544-8

Abstract

Purpose: Limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous category of autosomal inherited muscle diseases. Many genes causing LGMD have been identified, and clinical trials are beginning for treatment of some genetic subtypes. However, even with the gene-level mechanisms known, it is still difficult to get a robust and generalizable prevalence estimation for each subtype due to the limited amount of epidemiology data and the low incidence of LGMDs.

Methods: Taking advantage of recently published exome and genome sequencing data from the general population, we used a Bayesian method to develop a robust disease prevalence estimator.

Results: This method was applied to nine recessive LGMD subtypes. The estimated disease prevalence calculated by this method was largely comparable with published estimates from epidemiological studies; however, it highlighted instances of possible underdiagnosis for LGMD2B and 2L.

Conclusion: The increasing size of aggregated population variant databases will allow for robust and reproducible prevalence estimates of recessive disease, which is critical for the strategic design and prioritization of clinical trials.

Keywords: disease prevalence; limb-girdle muscular dystrophy; rare disease.

PubMed Disclaimer

Cited by

Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies.
James MK, Alfano LN, Muni-Lofra R, Reash NF, Sodhi J, Iammarino MA, Moat D, Shannon K, McCallum M, Richardson M, Eagle M, Straub V, Marini-Bettolo C, Lowes LP, Mayhew AG. James MK, et al. Phys Ther. 2022 Oct 6;102(10):pzac113. doi: 10.1093/ptj/pzac113. Phys Ther. 2022. PMID: 35932452 Free PMC article.
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
Mojbafan M, Bahmani R, Bagheri SD, Sharifi Z, Zeinali S. Mojbafan M, et al. Orphanet J Rare Dis. 2020 Jan 14;15(1):14. doi: 10.1186/s13023-020-1296-x. Orphanet J Rare Dis. 2020. PMID: 31937337 Free PMC article.
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Kang PB, Jorand-Fletcher M, Zhang W, McDermott SW, Berry R, Chambers C, Wong KN, Mohamed Y, Thomas S, Venkatesh YS, Westfield C, Whitehead N, Johnson NE; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Kang PB, et al. Neurol Genet. 2023 Nov 17;9(6):e200113. doi: 10.1212/NXG.0000000000200113. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38045992 Free PMC article.
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Maya-González C, Díaz De Ståhl T, Wessman S, Taylan F, Tesi B, Lagerstedt-Robinson K, Tettamanti G, Dukic M, Poluha A, Ljungman G, Nordgren A. Maya-González C, et al. Am J Case Rep. 2024 Dec 29;25:e945715. doi: 10.12659/AJCR.945715. Am J Case Rep. 2024. PMID: 39733240 Free PMC article.
Estimation of hereditary fructose intolerance prevalence in the Chinese population.
Tang M, Chen X, Ni Q, Lu Y, Wu B, Wang H, Yin Z, Zhou W, Dong X. Tang M, et al. Orphanet J Rare Dis. 2022 Aug 26;17(1):326. doi: 10.1186/s13023-022-02487-3. Orphanet J Rare Dis. 2022. PMID: 36028839 Free PMC article. Review.

See all "Cited by" articles

References

1. Vissing J. Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. Curr Opin Neurol. 2016;29:635–641.
1. Nallamilli BRR, Chakravorty S, Kesari A, et al. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. Ann Clin Transl Neurol. 2018;5:1574–1587.
1. Stence A, Westra S, Mathews KD, et al. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol. 2006;65:995–1003.
1. Magri F, Nigro V, Angelini C, et al. The Italian Limb Girdle Muscular Dystrophy Registry: relative frequency, clinical features, and differential diagnosis. Muscle Nerve. 2017;55:55–68.
1. Emery AE. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord. 1991;1:19–29.

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Elsevier Science
Medical
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

Affiliations

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

Authors

Affiliations

Abstract

Similar articles

Cited by

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical

Abstract

Similar articles

Cited by

References

Publication types

MeSH terms

Related information

LinkOut - more resources

Full Text Sources

Medical