Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene

Matos, Aline da Rocha; Sambuughin, Nyamkhishig; Rumjanek, Franklin David; Amoêdo, Nívea Dias; Cunha, L.B.P.; Zapata‐Sudo, Gisele; Sudo, R. T.

doi:10.1590/s0100-879x2009007500011

Cited by 3 publications

(1 citation statement)

References 35 publications

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“…A dominant mode of inheritance was predicted with the possibility of incomplete penetrance. In 1990, the gene responsible for malignant hyperthermia was discovered, though family history remains a key step in the discovery of new variants and a key predictor of malignant hyperthermia risk [ 16 , 17 , 18 , 19 ]. Similarly, the genetic role of adverse responses to anti-depressant treatments was demonstrated through family-based studies [ 20 , 21 , 22 ]; and in more recent years, twin studies have confirmed the genetic contribution to most drug responses [ 23 , 24 ].…”

Section: A Quick History Of Family Health History and Pgxmentioning

confidence: 99%

Expanding Family Health History to Include Family Medication History

Haga

Orlando

2023

JPM

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The collection of family health history (FHH) is an essential component of clinical practice and an important piece of data for patient risk assessment. However, family history data have generally been limited to diseases and have not included medication history. Family history was a key component of early pharmacogenetic research, confirming the role of genes in drug response. With the substantial number of known pharmacogenes, many affecting response to commonly prescribed medications, and the availability of clinical pharmacogenetic (PGx) tests and guidelines for interpretation, the collection of family medication history can inform testing decisions. This paper explores the roots of family-based pharmacogenetic studies to confirm the role of genes in these complex phenotypes and the benefits and challenges of collecting family medication history as part of family health history intake.

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Section: A Quick History Of Family Health History and Pgxmentioning

confidence: 99%

Expanding Family Health History to Include Family Medication History

Haga

Orlando

2023

JPM

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Pharmacogenetics of Adverse Drug Reactions

Turner

Pirmohamed

2015

Advances in Predictive, Preventive and Personalised Medicine

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Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population

Kraeva

Riazi

Loke

et al. 2011

Can J Anesth/J Can Anesth

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Purpose Malignant hyperthermia (MH) is an autosomal dominant pharmacogenetic disorder that is manifested on exposure of susceptible individuals to halogenated anesthetics or succinylcholine. Since MH is associated primarily with mutations in the ryanodine receptor type 1 (RYR1) gene, the purpose of this study was to determine the distribution and frequency of MH causative RyR1 mutations in the Canadian MH susceptible (MHS) population. Methods In this study, we screened a representative cohort of 36 unrelated Canadian MHS individuals for RYR1 mutations by sequencing complete RYR1 transcripts and selected regions of CACNA1S transcripts. We then analyzed the correlation between caffeine-halothane contracture test (CHCT) results and RYR1 genotypes within MH families. Results Eighty-six percent of patients had at least one RyR1 mutation (31 out of 36), five of which were unrelated individuals who were double-variant carriers. Fifteen of the 27 mutations identified in RYR1 were novel. Eight novel mutations, involving highly conserved amino acid residues, were predicted to be causal. Two of the mutations co-segregated with the MHS phenotype within two large independent families (a total of 79 individuals). Fourteen percent of MHS individuals (five out of 36) carried neither RYR1 nor known CACNA1S mutations. Conclusions The distribution and frequency of MH causative RyR1 mutations in the Canadian MHS population are close to those of European MHS populations. Novel mutations described in this study will contribute to the worldwide pool of MH-associated mutations in the RYR1 gene, ultimately increasing the value of MH genetic diagnostic testing. RésuméObjectif L'hyperthermie maligne (HM) est une maladie pharmacoge´ne´tique he´re´ditaire dominante autosomique qui se manifeste lors de l'exposition des personnes susceptibles a`des anesthe´siques haloge´ne´s ou à la succinylcholine. E´tant donne´que l'HM est principalement associe´e aux mutations au niveau du ge`ne des re´cepteurs de ryanodine de type 1 (RYR1), l'objectif de cette e´tude e´tait de de´terminer la distribution et la fre´quence des mutations RyR1 causant une HM chez la population canadienne susceptible a`l'HM (SHM). Méthode Dans cette e´tude, nous avons examine´une cohorte repre´sentative de 36 personnes canadiennes SHM This article is accompanied by an editorial. Please see Can J Anesth 2011; 58: 6.

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Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene

Cited by 3 publications

References 35 publications

Expanding Family Health History to Include Family Medication History

Expanding Family Health History to Include Family Medication History

Pharmacogenetics of Adverse Drug Reactions

Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population

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