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
منابع مشابه
Junctional epidermolysis bullosa.
Epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB. We present the case of a male neonate of 36 weeks of gestation, who was born with a few b...
متن کاملAnalysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
Non-Herlitz junctional epidermolysis bullosa (nH-JEB) disease manifests with skin blistering, atrophy and tooth enamel hypoplasia. The majority of patients with nH-JEB harbor mutations in COL17A1, the gene encoding type XVII collagen. Heterozygotes with a single COL17A1 mutation, nH-JEB defect carriers, may exhibit only enamel hypoplasia. In this study, to further elucidate COL17A1 mutation phe...
متن کاملJunctional and Dystrophic Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a congenital genodermatosis, which affects mainly skin and occasionally other organs [1]. Lifelong blistering and erosion of the skin and mucous membrane, caused by mechanical trauma, threaten EB patients [1]. The most common cause of death is metastasizing squamous cell carcinoma [2]. EB is subdivided into mainly three categories by the location of tissue separati...
متن کاملEpidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.
OBJECTIVE To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. DESIGN Observational study (cross-sectional and longitudinal). SETTING Australian private dermatology practice, inpatient ward, and outpatient clinic. PATIENTS Systematic case finding of patients with EB simplex, junctional EB (JEB...
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ژورنال
عنوان ژورنال: Genes
سال: 2023
ISSN: ['2073-4425']
DOI: https://doi.org/10.3390/genes14101835