Interstitial Lung Disease

Gene: KCNK3

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The KCNK3 gene (alias Task-1) encodes a voltage-sensitive potassium channel which is expressed in pulmonary artery smooth muscle cells.

PMID: 23883380 - KCNK3 missense variants with incomplete penetrance have been identified in several families with adult-onset PAH.

PMID: 27649371- Single report of homozygous missense variant in KCNK3(c.316G>C; p.Gly106Arg) in a paediatric case of PAH. The child was diagnosed at the age of 2 months with a severe form of PAH and he underwent lung transplantation at the age of 5 years. His mother who was a heterozygous carrier was diagnosed at the age of 19, one year after giving birth, of severe PAH, requiring bilateral lung transplantation 26 months after diagnosis. The child’s father was an asymptomatic carrier of the same mutation in KCNK3. The authors hypothesize that in PAH due to mutations in KCNK3 incomplete dominance with worsening of the clinical features for homozygous carriers might be observed.

Created: 6 Nov 2021, 11:03 p.m. | Last Modified: 6 Nov 2021, 11:03 p.m.

Panel Version: 0.183

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Pulmonary arterial hypertension.

Publications

• PMID: 23883380
• 27649371