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Table 1 Some genetic and clinical data of 16 currently known patients with ARV1-associated disease

From: Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report

ARV1 mutation

Mutation type

Patients

Patients with DEE38 (%)

Patients with DCM (%)

Patients who died (%)

References

p.G189R

ho/missense

5

5 (100)

2 (40)

1 (20)

[4, 5, 7]

p.K59_N98del

ho/splice

6

6 (100)

0 (0)

6 (100)

[4, 6]

c.674-2A>T

ho/splice

2

2 (100)

0 (0)

0 (0)

[6]

p.S122Qfsstop7/

ch/loss of

2

2(100)

1 (50)

2 (100)

[8]

p.W163stop

function

     

p.L185del

ho/deletion

1

1 (100)

1 (100)

0 (0)

This study

Total (%)

–

16 (100)

16 (100)

4 (25)

9 (56)

–

  1. Note that all patients reveal a neurocognitive DEE38 phenotype, while only 25% of them also reveal, in addition, DCM. Also note that all patients with the p.K59_N98del and p.S122Qfsstop7/p.W163stop mutations died prematurely, in contrast to only one from the rest of the patients (see the text)
  2. ho homozygous; ch compound heterozygous