New RDEB intermediate variant with in-frame partial exon skipping in FN-III-like domain of type VII collagen.
Evtushenko, N.; Kubanov, A.; Martynova, A.; Kondratyev, N.; Beilin, A.; Karamova, A.; Monchakovskaya, E.; Azimov, K.; Nefedova, M.; Bozhanova, N.; Zaklyazminskaya, E.; Gurskaya, N.
Show abstract
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a debilitating genodermatosis caused by pathogenic mutations in the COL7A1 gene, which induce absence or reduction in the number of anchoring fibrils. The severity of RDEB depends on the mutation type and localization, but many aspects of this dependence remain to be elucidated. Here, we report a novel variant of RDEB Intermediate in two unrelated patients. Their disease manifestation includes early skin and oral mucosa blistering and is associated with localized atrophic scarring. According to the exome and Sanger sequencing results, both investigated Probands are the carriers of complex heterozygosity in the COL7A1 gene with the same deletion in intron 19 of the COL7A1 gene. RT-PCR followed by sequence analysis revealed skipping of the part of exon19, as well as the rescue of the open reading frame (ORF) of COL7A1 in both Probands. We hypothesize that the mutation in the acceptor splice site leads to the activation of the cryptic donor splice site, resulting in the truncated but partially functional protein and the milder phenotype of intermediate RDEB. This rare type of mutation expands our understanding of RDEB etiology and invites further investigation.
Matching journals
The top 6 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome 92%
- Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia 90%
- AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis 90%
Similar papers in this journal
- Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with MMP20 95%
- Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay 94%
- Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A 93%
Similar papers in this journal
- Evaluation of a genetic risk score for severity of COVID-19 using human chromosomal-scale length variation. 91%
- Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project 90%
- Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants 90%
Similar papers in this journal
- Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism 96%
- CPT1B-Mediated Fatty Acid Oxidation Induces Pigmentation in Solar Lentigo 89%
- Reconstructed human pigmented skin/epidermis models achieve epidermal pigmentation through melanocore transfer. 88%
Similar papers in this journal
- BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 92%
- Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 92%
- Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia 92%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.