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      Ryanodine receptor type 3 (RYR3 ) as a novel gene associated with a myopathy with nemaline bodies

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          Abstract

          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.

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          Mutations in RYR1 in malignant hyperthermia and central core disease.

          Rachel Robinson, Philip Hopkins, Marie-Anne Shaw … (2006)
          The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation-contraction coupling and skeletal muscle calcium homeostasis. Mapping to chromosome 19q13.2, the gene comprises 106 exons and encodes a protein of 5,038 amino acids. Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia (MH); and three congenital myopathies, including central core disease (CCD), multiminicore disease (MmD), and in an isolated case of a congenital myopathy characterized on histology by cores and rods. The majority of gene mutations reported are missense changes identified in cases of MH and CCD. In vitro analysis has confirmed that alteration of normal calcium homeostasis is a functional consequence of some of these changes. Genotype-phenotype correlation studies performed using data from MH and CCD patients have also suggested that mutations may be associated with a range of disease severity phenotypes. This review aims to summarize the current understanding of RYR1 mutations reported in association with MH and CCD and the present viewpoint on the use of mutation data to aid clinical diagnosis of these conditions.
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            Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

            V A Fabian, Thomas E Todd, Hiroshi Doi … (2013)
            Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort of 143 severe-NEM-affected families lacking genetic diagnosis. We performed whole-exome sequencing of six families and targeted gene sequencing of additional families. We identified 19 mutations in KLHL40 (kelch-like family member 40) in 28 apparently unrelated NEM kindreds of various ethnicities. Accounting for up to 28% of the tested individuals in the Japanese cohort, KLHL40 mutations were found to be the most common cause of this severe form of NEM. Clinical features of affected individuals were severe and distinctive and included fetal akinesia or hypokinesia and contractures, fractures, respiratory failure, and swallowing difficulties at birth. Molecular modeling suggested that the missense substitutions would destabilize the protein. Protein studies showed that KLHL40 is a striated-muscle-specific protein that is absent in KLHL40-associated NEM skeletal muscle. In zebrafish, klhl40a and klhl40b expression is largely confined to the myotome and skeletal muscle, and knockdown of these isoforms results in disruption of muscle structure and loss of movement. We identified KLHL40 mutations as a frequent cause of severe autosomal-recessive NEM and showed that it plays a key role in muscle development and function. Screening of KLHL40 should be a priority in individuals who are affected by autosomal-recessive NEM and who present with prenatal symptoms and/or contractures and in all Japanese individuals with severe NEM. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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              Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.

              Ingrid Frohn-Mulder, C Ebink, B. Bosker … (2012)
              Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome associated with mutations in the cardiac ryanodine receptor gene (Ryr2) in the majority of patients. Previous studies of CPVT patients mainly involved probands, so current insight into disease penetrance, expression, genotype-phenotype correlations, and arrhythmic event rates in relatives carrying the Ryr2 mutation is limited. One-hundred sixteen relatives carrying the Ryr2 mutation from 15 families who were identified by cascade screening of the Ryr2 mutation causing CPVT in the proband were clinically characterized, including 61 relatives from 1 family. Fifty-four of 108 antiarrhythmic drug-free relatives (50%) had a CPVT phenotype at the first cardiological examination, including 27 (25%) with nonsustained ventricular tachycardia. Relatives carrying a Ryr2 mutation in the C-terminal channel-forming domain showed an increased odds of nonsustained ventricular tachycardia (odds ratio, 4.1; 95% CI, 1.5-11.5; P=0.007, compared with N-terminal domain) compared with N-terminal domain. Sinus bradycardia was observed in 19% of relatives, whereas other supraventricular dysrhythmias were present in 16%. Ninety-eight (most actively treated) relatives (84%) were followed up for a median of 4.7 years (range, 0.3-19.0 years). During follow-up, 2 asymptomatic relatives experienced exercise-induced syncope. One relative was not being treated, whereas the other was noncompliant. None of the 116 relatives died of CPVT during a 6.7-year follow-up (range, 1.4-20.9 years). Relatives carrying an Ryr2 mutation show a marked phenotypic diversity. The vast majority do not have signs of supraventricular disease manifestations. Mutation location may be associated with severity of the phenotype. The arrhythmic event rate during follow-up was low.
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                Author and article information

                Journal
                Title: European Journal of Neurology
                Abbreviated Title: Eur J Neurol
                Publisher: Wiley
                ISSN: 13515101
                Publication date Created: June 2018
                Publication date (Print): June 2018
                Publication date (Electronic): March 26 2018
                Volume: 25
                Issue: 6
                Pages: 841-847
                Affiliations
                [1 ]Pediatric Pathology Research Centre; Mofid Children's Hospital; Shahid Beheshti University of Medical Sciences; Tehran
                [2 ]Department of Neurology; Tehran University of Medical Sciences; Tehran Iran
                [3 ]Department of Integrative Medical Biology; Umeå University; Umeå
                [4 ]Department of Clinical Sciences; Umeå University; Umeå 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
                [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; Folkhälsan 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 Skövde; Skövde Sweden
                Article
                DOI: 10.1111/ene.13607
                PubMed ID: 29498452
                SO-VID: ea1067b4-92b8-41a9-9741-cb6fe9794473
                Copyright © © 2018
                License:

                http://doi.wiley.com/10.1002/tdm_license_1.1

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