Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa

نویسندگان

چکیده

Epidermolysis bullosa (EB), characterized by defective adhesion of the epidermis to dermis, is a heterogeneous disease with many subtypes in human patients and domestic animals. We investigated two unrelated cats recurring erosions ulcers on ear pinnae, oral mucosa, paw pads that were suggestive EB. Histopathology confirmed diagnosis EB both cats. Case 1 was severe had be euthanized at 5 months age. 2 milder course alive 11 years age time writing. Whole genome sequencing affected revealed independent homozygous variants COL17A1 encoding collagen type XVII alpha chain. Loss function lead junctional epidermolysis (JEB) patients. The identified splice site variant case 1, c.3019+1del, predicted complete deficiency XVII. region variant, c.769+5G>A. Assessment functional impact this transcript level demonstrated partial aberrant splicing residual expression wildtype transcript. Thus, molecular analyses provided plausible explanation difference clinical severity between cases allowed refinement JEB. This study highlights complexity animals contributes better understanding genotype-phenotype correlation COL17A1-related

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ژورنال

عنوان ژورنال: Genes

سال: 2023

ISSN: ['2073-4425']

DOI: https://doi.org/10.3390/genes14101835