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Breaking News: 100 days of uncertaintySee today's BioWorld Science
Home » HMCN1 variants aggravate severe phenotype in KRT14-associated EBS
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Biomarkers

HMCN1 variants aggravate severe phenotype in KRT14-associated EBS

March 13, 2025
To identify new genetic modifiers for epidermolysis bullosa simplex (EBS), a team led by scientists at Tel Aviv Medical Center performed exome sequencing of 195 patients with EBS from 90 different families, followed by screening for pathogenic variants in selected individuals, which resulted in identification of 3 variants in HMCN1 (codes for hemicentin-1) that co-segregated with the disease phenotype severity in 4 families.
BioWorld Science Biomarkers Dermatologic Genetic/congenital

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