Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study

Table 3 Double mutations of the ryanodine receptor type 1

									In vitro contracture test
									Contracture		Threshold
No. of patients in this study	Exon	Nucleotide	Substitution	Causative mutation?	PolyPhen2 predictions	Sift predictions	Mutation taster predictions	References	2 vol% halothane [mN]	2 mmoll^-1caffeine [mN]	halothane [vol%]	caffeine [mmoll^-1]	CGS
1	11	c.1100G>T	p.R367L	No	+	-	+	This study, T. Girard	20.0	4.5	1.0	1.5	48
1	65	c.9649T>C	p.S3217P	No				Levano et al. 2009 [38]	20.0	4.5	1.0	1.5	48
1	8	c.677T>A	p.M226K	No				Robinson et al. 2006 [6]	53.0	24.0	0.5	0.5	38
1	28	c.4024A>G	p.S1342G	No				Levano et al. 2009 [39]	53.0	24.0	0.5	0.5	38
1	44	c.7085A>G	p.E2362G	No				Galli et al. 2006 [30]	56.0	57.0	0.5	0.5	35
1	93	c.13513G>C	p.D4505H	No				Groom et al. 2011 [50]	56.0	57.0	0.5	0.5	35
1	29	c.4178A>G	p.K1393R	No				Vukcevic et al. 2010 [51]	15.0	12.0	0.5	1.5	35
	98	c.14210G>A	p.R4737Q	No				Monnier et al. 2005 [49]

In this study four patients carried a double mutation of the ryanodine receptor type 1 (RyR1). These patients had marked outcomes in the in vitro contracture tests but clinical grading scales were avarage (mean: 39.00 points). Due to the small number of cases a statistical analysis was not performed. Novel mutations (n = 1) are highlighted (bold). CGS = clinical grading scale.

ISSN: 1750-1172