G.P.13.10 High frequency of polymorphisms in the RYR1 gene in Brazilian patients with centronuclear myopathy

Yamamoto, Lídia; Maia, Lucas S; Ayub-Guerrieri, D.; Onofre, P.C.G.; Lopes, Vanessa F.; Zilberztajn, Dinorah; Martins, P.C.M.; Senkevics, Adriano Souza; Santos, André L. F.; Sell, Karen; Zatz, Mayana; Silva, H.C.; Gurgel-Gianneti, J.; Vainzof, Mariz

doi:10.1016/j.nmd.2008.06.295

Cited by 1 publication

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“…There is also the possibility that variants in other genes could interact with RYR1 polymorphisms 33,34 . Even if not responsible for MH alone, the modifying effect of more than one polymorphism on an allele may yet prove to be significant, as was alluded to with RYR1 polymorphisms and patients with centronuclear myopathy 35 . Much work studying family pedigrees and tracking changes across multiple generations is needed to clarify whether these ideas are another plausible explanation for MH.…”

Section: Discussionmentioning

confidence: 99%

Analysis of the Entire Ryanodine Receptor type 1 and Alpha 1 Subunit of the Dihydropyridine Receptor (CACNA1S) Coding Regions for Variants Associated with Malignant Hyperthermia in Australian Families

Gillies

Bjorksten

Sart

et al. 2015

Anaesth Intensive Care

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Defects in the genes coding for the skeletal muscle ryanodine receptor (RYR1) and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been identified as causative for malignant hyperthermia (MH). Sixty-two MH susceptible individuals presenting to the same diagnostic centre had copy deoxyribonucleic acid, derived from muscle ribonucleic acid, sequenced to identify variants with the potential to be responsible for the MH phenotype in both RYR1 and CACNA1S. These genetic findings were combined with clinical episode details and in vitro contracture test results to improve our understanding of the Australian MH cohort. Twelve novel variants were identified in RYR1 and six in CACNA1S. Known RYR1 causative mutations were identified in six persons and novel variants in RYR1 and CACNA1S in a further 17 persons. Trends indicated higher mutation identification in those with more definitive clinical episodes and stronger in vitro contracture test responses.

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Section: Discussionmentioning

confidence: 99%