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Table 1 The clinical characteristics of the study sample

From: KCNE1D85N polymorphism — a sex-specific modifier in type 1 long QT syndrome?

 

D85D major homozygotes

D85N heterozygotes

N85N minor homozygotes

All subjects

   

n (%)

689 (96.8)

21 (2.9)

2 (0.3)

Age (years)

29.7 ± 20.0

28.7 ± 20.2

7.0 ± 4.2

Males (%)

280 (40.6)

8 (38.1)

2 (100)

QTc (ms)

458 ± 36.8

472 ± 35.2

468 ± 34.6

Founder mutation status

   

   KCNQ1 G589D

   

n

474a

16b

2

QTc

459 ± 36.2

479 ± 31.0

468 ± 34.6

   KCNQ1 IVS7-2A>G

   

n

66b

0

0

QTc

465 ± 30.0

-

-

   KCNH2 L552S

   

n

71c

2

0

QTc

464 ± 48.3

490 ± 7.1

-

   KCNH2 R176W

   

n

84d

4e

0

QTc

445 ± 30.6

442 ± 46.5

-

  1. The figures represent the mean ± SD. SD, standard deviation; QTc, heart rate-corrected QT interval.
  2. aFour subjects carrying also KCNH2 R176W, one KCNH2 L552S, and one KCNQ1 Y171X.
  3. bOne subject carrying also KCNH2 R176W.
  4. cIncludes two KCNH2 L552S homozygotes and one subject carrying also KCNQ1 G589D.
  5. dFour subjects carrying also KCNQ1 G589D and one KCNQ1 IVS7-2A>G.
  6. eOne subject carrying also KCNQ1 G589D.
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BMC Medical Genetics

ISSN: 1471-2350

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