Am J Med Genet A. 2025 Feb 27:e64032. doi: 10.1002/ajmg.a.64032. Online ahead of print.
ABSTRACT
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disorder caused by biallelic pathogenic variants in COL7A1, the gene encoding the alpha-1 chain of type VII collagen (C7). While over 100 pathogenic variants in COL7A1 have been linked to RDEB, recurrent variants or hot spots are rare. A recurrent pathogenic variant, c.7485+5G>A (also known as IVS98+5G>A) in intron 98 of COL7A1, has been noted in patients of Hispanic ethnicity seen in the Epidermolysis Bullosa Clinic at Children’s Hospital Colorado. We describe the phenotypic characteristics of 17 patients with this variant and compare the phenotypic severity of patients homozygous versus compound heterozygous for the variant. These genotype-phenotype correlations may help to provide prognostic information to patients and families affected by RDEB.
PMID:40013374 | DOI:10.1002/ajmg.a.64032
