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Article

Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact.

Journal of human genetics - 1 Mar 2026

Warang Prashant, Dehadrai Pradnya, Samanpalliwar Neha, Dongerdiye Rashmi, More Tejashree Anil, Chiddarwar Ashish, Thaker Pallavi, Kamble Prachi, Saptarshi Arati, Madkaikar Manisha, Kedar Prabhakar S

Abstract excerpt

Gardos channelopathies are rare hereditary hemolytic anaemias caused by mutations in the KCNN4 gene, which encodes the calcium-activated potassium channel (KCa3.1) in red blood cells. In this study, we report three unrelated Indian patients with unexplained chronic hemolytic anaemia. Whole exome sequencing revealed distinct KCNN4 mutations: a homozygous c.5G > A mutation (p.Gly2Asp) in Case I, a compound...

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Share to Anemia, Hemolytic, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41168459
DOI: 10.1038/s10038-025-01414-1

Genes

KCNN4
G6PD
GPI
HBB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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