Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

Table 1 Clinical characteristics of ARVC subjects with mutations in desmosomal genes

ARVC diagnostic criteria	Criteria fulfilled	Subject
		Family I.1	Family II.1	Family II.2	Family III.1	Family III.2	Family IV.1
Sex		M	M	M	F	M	M
Age at diagnosis (years)		41	20	17	35	18	16
Global and regional dysfunction and structural alterations	Major	1	1	1		1	1
	Minor				1
Tissue characterization	Major			1		NA
	Minor
Repolarization abnormalities	Major					NA
	Minor
Depolarization/conduction abnormalities	Major					NA
	Minor
Arrhythmias	Major	1	1	1		NA	1
	Minor
Family history	Major		1	1	NA	NA
	Minor
Mutation		DSG2, c. 208A > G^† (Ile70Val), PKP2a, c.397 C > T (Gln133*)	DSC2, C.1234-35insA^†,(p.Thr412Asnfs*2)	DSC2, C.1234-35insA^†, (p.Thr412Asnfs*2)	PKP2, c.2540 delT^†, (p.Leu847Argfs*83)	PKP2, c.2540 delT^†, (p.Leu847Argfs*83)	PKP2, C.2197-2202delinsG, (p.His733Alafs*8)
Predicted functional effect		DSG2, Ile70Val, Benign
Mutation screening in 150 normal healthy controls		Absent	Absent	Absent	Absent	Absent	ND (reported earlier)

M, male; F, female; NA, not available; ND, Not determined; †, novel mutations reported in this study; numbering, number of major or minor criteria filled

ISSN: 1471-2350