A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy

Figures & data

Table I. Results of the genetic screening of the mutations in MYH7, TPM1, and MYBPC3 among the 306 patients of the FinHCM Study.

Gene	Mutation	Nucleotide change	Published by other groups	No. of patients with mutations in the present study, n (%)	No. of patients with mutations in previous HCM study (7), n (%)	Condel score	Condel prediction
Causative mutations
MYH7	R1053Q	CGG/CAG	Yes	17 (5.6%)^a	NA^b	0.928	‘Deleterious’
	N696S	AAT/AGT	Yes^c	0	NA^d	0.871–0.894	‘Deleterious’
	R719W	CGG/TGG	Yes	0	1 (∼3%)	0.949–0.978	‘Deleterious’
TPM1	D175G	GAC/GGC	No	1 (0.3%)	NA	0.868–0.937	‘Deleterious’
MYBPC3	IVS5-2A-C	A/C	No	2 (0.7%)	1 (∼3%)	NA	NA
	IVS14-13G-A	G/A	Yes	2 (0.7%)	1 (∼3%)	NA	NA
	K811del	Deletion of AAG	Yes	6 (2.0%)	1 (∼3%)	NA	NA
	A851insT	Insertion of T	Yes	4 (1.3%)	NA	NA	NA
Total				32 (10.5%)	4 (∼11%)
Variants of unknown significance
MYBPC3	R326Q	CGG/CAG	Yes	8 (2.6%)^e	1 (∼3%)	0.82–0.862	‘Deleterious’
	V896M	GTG/ATG	Yes	10 (3.3%)^f	1 (∼3%)	0.688–0.729	‘Deleterious’

DCM = dilated cardiomyopathy; HCM = hypertrophic cardiomyopathy; MYBPC3 = cardiac myosin-binding protein C gene; MYH7 = beta-myosin heavy chain gene; TPM1 = alpha-tropomyosin gene; NA = no data available.

^aTwo of the 17 patients were related to each other.

^bFound in a cohort of DCM patients from eastern Finland in a family with either DCM or HCM phenotype.

^cReported by Millat et al. in 2010 (17) and by Teirlinck et al. in 2012 (48).

^dFound in a single child with HCM outside the original study group.

^eTwo of the eight patients were double heterozygous (MYBPC3-R326Q and MYH7-R1053Q; MYBPC3-R326Q and MYBPC3-K811del).

^fTwo of the 10 patients were double heterozygous (MYBPC3-V896M and MYBPC3-Q1061X; MYBPC3-V896M and TPM1-D175N).

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