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Article

How variant discovery redefines genetic prevalence: the case of cystine stone disease.

European journal of human genetics : EJHG - 1 Jul 2026

Wu Chen-Han Wilfred, Chang Joshua, Lovrenert Katreya, Bodner Donald, Hildebrandt Friedhelm, Schumacher Fredrick R

Abstract excerpt

Cystine stones are caused by pathogenic variants in SLC3A1 or SLC7A9. Our prior study revealed a large gap between genetic and clinical prevalence. With increasing discovery of novel variants, we aim to assess how these impact genetic prevalence estimates. Due to the disease rarity, direct patient recruitment and observation is impractical. We applied a population genetics approach to estimate genetic burden and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41957517
DOI: 10.1038/s41431-026-02085-y
PMCID: PMC13341753

Genes

SLC3A1
SLC7A9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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