Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies

Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies Publisher Pubmed

Nilipour Y¹ ; Nafissi S² ; Tjust AE^{3, 4} ; Ravenscroft G⁵ ; Hossein Nejad Nedai H⁶ ; Taylor RL⁵ ; Varasteh V⁶ ; Pedrosa Domellof F^{3, 4} ; Zangi M⁷ ; Tonekaboni SH¹ ; Olive M⁸ ; Kiiski K⁹ ; Sagath L⁹ ; Davis MR¹⁰ Show All Authors

Nilipour Y¹
Nafissi S²
Tjust AE^{3, 4}
Ravenscroft G⁵
Hossein Nejad Nedai H⁶
Taylor RL⁵
Varasteh V⁶
Pedrosa Domellof F^{3, 4}
Zangi M⁷
Tonekaboni SH¹
Olive M⁸
Kiiski K⁹
Sagath L⁹
Davis MR¹⁰
Laing NG⁵
Tajsharghi H^{5, 11}

Show Affiliations

1. Pediatric Pathology Research Centre, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Integrative Medical Biology, Umea University, Umea, Sweden
4. Department of Clinical Sciences, Umea University, Umea, Sweden
5. Centre for Medical Research, University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, WA, Australia
6. Department of Pathology, Shahid Beheshti University of Medical Sciences, Tehran, Iran
7. Tracheal Diseases Research Center (TDRC), National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
8. Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain
9. Department of Medical and Clinical Genetics, Folkhalsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland
10. Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, WA, Australia
11. Division of Biomedicine, School of Health and Education, University of Skovde, Skovde, Sweden

Source: European Journal of Neurology Published:2018

Abstract

Background and purpose: Nemaline myopathy (NEM) has been associated with mutations in 12 genes to date. However, for some patients diagnosed with NEM, definitive mutations are not identified in the known genes, suggesting that there are other genes involved. This study describes compound heterozygosity for rare variants in ryanodine receptor type 3 (RYR3) gene in one such patient. Methods and results: Clinical examination of the patient at 22 years of age revealed a long narrow face, high arched palate and bilateral facial weakness. She had proximal weakness in all four limbs, mild scapular winging but no scoliosis. Muscle biopsy revealed wide variation in fibre size with type 1 fibre predominance and atrophy. Abundant nemaline bodies were located in perinuclear and subsarcolemmal areas, and within the cytoplasm. No likely pathogenic mutations in known NEM genes were identified. Copy number variation in known NEM genes was excluded by NEM-targeted comparative genomic hybridization array. Next-generation sequencing revealed compound heterozygous missense variants in the RYR3 gene. RYR3 transcripts are expressed in human fetal and adult skeletal muscle as well as in human brain and cauda equina samples. Immunofluorescence of human skeletal muscle revealed a ‘single-row’ appearance of RYR3, interspersed between the ‘double rows’ of ryanodine receptor type 1 (RYR1) at each A–I junction. Conclusion: The results suggest that variants in RYR3 may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of RYR3 in human skeletal muscle and brain, and the subcellular localization of RYR1 and RYR3 in human skeletal muscle. © 2018 EAN

2. Nemaline Myopathy: Reclassification of Previously Reported Variants According to Acmg Guidelines, and Report of Novel Genetic Variants, European Journal of Human Genetics (2023)

Experts (# of related papers)

Shahriar Nafissi (1)

Ali Reza Tavasoli (1)

Style	Citing Format
MLA	Nilipour Y, et al.. "Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies." European Journal of Neurology, vol. 25, no. 6, 2018, pp. 841-847.
APA	Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellof F, Zangi M, Tonekaboni SH, Olive M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H (2018). Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies. European Journal of Neurology, 25(6), 841-847.
Chicago	Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, et al.. "Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies." European Journal of Neurology 25, no. 6 (2018): 841-847.
Harvard	Nilipour Y et al. (2018) 'Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies', European Journal of Neurology, 25(6), pp. 841-847.
Vancouver	Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, et al.. Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies. European Journal of Neurology. 2018;25(6):841-847.
BibTex	@article{ author = {Nilipour Y and Nafissi S and Tjust AE and Ravenscroft G and Hossein Nejad Nedai H and Taylor RL and Varasteh V and Pedrosa Domellof F and Zangi M and Tonekaboni SH and Olive M and Kiiski K and Sagath L and Davis MR and Laing NG and Tajsharghi H}, title = {Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies}, journal = {European Journal of Neurology}, volume = {25}, number = {6}, pages = {841-847}, year = {2018} }
RIS	TY - JOUR AU - Nilipour Y AU - Nafissi S AU - Tjust AE AU - Ravenscroft G AU - Hossein Nejad Nedai H AU - Taylor RL AU - Varasteh V AU - Pedrosa Domellof F AU - Zangi M AU - Tonekaboni SH AU - Olive M AU - Kiiski K AU - Sagath L AU - Davis MR AU - Laing NG AU - Tajsharghi H TI - Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies JO - European Journal of Neurology VL - 25 IS - 6 SP - 841 EP - 847 PY - 2018 ER -

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