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Table 2 Clinical and genetic findings in DSC2 mutation carriers

From: Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

Proband# (Family #)

Sex

Age at diagnosis/Last follow-up

Family history

 

12-lead ECG

SAECG

Arrhythmias

RV size/function

LV involv

Diagnostic criteria

Nucleotide change

AA change

GenBank accession number

   

Major

Minor

Negative T waves preocordial leads

Negative T waves inferior leads

IncomRBBB

Epsilon wave

 

PVCs >1000/24 h NSVT

LBBB SVT

VF

Major

Minor

     

I1 (Fam149)

M

58

-

+

-

-

-

-

-

-

-

-

-

-

-

1 m

c.304G>A

p.E102K

EF017811

II1 (Fam149)

M

22

-

+

-

-

+

-

-

-

-

-

-

+

-

3 m

c.304G>A

p.E102K

EF017811

II2 (Fam149)

M

19

-

-

-

-

+

-

+

+

-

-

+

-

+

1 M/3 m

c.304G>A

p.E102K

EF017811

II3 (Fam149)

M

25

-

+

-

-

-

-

-

-

-

-

-

+

-

2 m

c.304G>A

p.E102K

EF017811

II1 (Fam170)

M

50

-

+

V4–V6

-

-

+

+

-

+

-

+

-

+

2 M/3 m

c.1034T>C

p.I345T

EF017812

III2 (Fam170)

F

15

-

+

-

-

-

-

-

-

-

-

-

+

-

2 m

c.1034T>C

p.I345T

EF017812

  1. LBBB indicates left bundle-branch block; LV, left ventricular; NSVT, nonsustained ventricular tachycardia; RV, right ventricular; SVT, sustained ventricular tachycardia; VF, ventricular fibrillation; and M, major diagnostic criteria, m, minor diagnostic criteria
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BMC Medical Genetics

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