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Table 1 Genotype-phenotype correlation in the Chinese family with both RWS and JLNS and KCNQ1 mutation T322M

From: Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family

ID

Sex/Age

Deafness

Symptoms

QTc (s)

Genotype

I:1

M/71

No

None

0.420

T322 T322

I:2

F/65

No

Chest discomfort

0.487

T322 M322

II:1

F/42

No

1 syncope (trigger, exercise)

0.430

T322 M322

II:2

M/43

No

Palpitation, dyspnea

0.420 0.410 0.400

T322 M322

II:3

F/39

No

None

0.400

T322 T322

II:4

F/36

No

dyspnea, palpitation

0.455 0.454 0.444

T322 M322

III:1

F/17

Yes

12 syncope (trigger, exercise) Atrial fibrillation

0.520 0.608

M322 M322

III:2

M/8

Yes

3 syncope (trigger, exercise)

0.512 0.627

M322 M322

III:3

M/16

No

None

0.397

T322 T322

III:4

M/9

No

None

0.447

T322 M322