A founder <i>UMOD</i> variant is a common cause of hereditary nephropathy in the British population.

ABSTRACT:

Background

Monogenic disorders are estimated to account for 10%-12% of patients with kidney failure. We report the unexpected finding of an unusual uromodulin (UMOD) variant in multiple pedigrees within the British population and demonstrate a shared haplotype indicative of an ancestral variant.

Methods

Probands from 12 apparently unrelated pedigrees with a family history of kidney failure within a geographically contiguous UK region were shown to be heterozygous for a pathogenic variant of UMOD c.278_289delTCTGCCCCGAAG insCCGCCTCCT.

Results

A total of 88 clinically affected individuals were identified, all born in the UK and of white British ethnicity. 20 other individuals with the variant were identified in the UK 100,000 Genomes (100K) Project and 9 f

SUBMITTER: Valluru MK 

PROVIDER: S-EPMC10086494 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature