A founder UMOD variant is a common cause of hereditary nephropathy in the British population

In this study, we report the unexpected finding of an unusual UMOD variant (c.278_289delTCTGCCCCG AAG insCCGCCTCCT) in multiple pedigrees within the British population, all of White British ancestry, from a wide geographical distribution across the UK. A common extended haplotype indicative of an ancestral variant was identified within 1Mb of the UMOD variant in all individuals undergoing genome sequencing through the 100,000 Genomes (100K) Project and the UK Biobank (UKBB).  When published cases are included, a total of 237 individuals from 55 pedigrees have now been reported with this founder variant, all from the UK. (By Professor Albert Ong, https://jmg.bmj.com/content/early/2022/08/29/jmg-2022-108704 )

UK choropleth map showing total identified cases across different counties in England

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