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A Homozygous Nonsense Variant in Uvssa Causes Uv‑Sensitive Syndrome From Very Large Kindred: The First Report From Iran Publisher



Shadmehri AA1 ; Akbarian F2 ; Rahimi A2 ; Pourreza MR3 ; Tabatabaiefar MA2, 4, 5
Authors

Source: Advanced Biomedical Research Published:2023


Abstract

Background: Recessive disruptive mutations in nucleotide excision repair genes are responsible for a wide range of cutaneous photosensitivity and, in some cases, are associated with multi‑system involvement. The heterogeneous nature of these conditions makes next‑generation sequencing the method of choice to detect disease‑causing variants. Materials and Methods: A patient from a large multiplex inbred Iranian kindred with several individuals suffering from skin sun‑sensitive manifestations underwent complete clinical and molecular evaluations. Whole exome sequencing (WES) was performed on the genomic sample of the proband, followed by bioinformatics analysis. Subsequently, co‑segregation of the candidate variant with the condition was performed by Sanger sequencing. Results: A rare homozygous nonsense variant, c.1040G>A (p. Trp347*), was identified in the UVSSA gene, resulting in UV‑sensitive syndrome (UVSS) complementation group A. The global minor allele frequency of the variant is < 0.001 in population databases. Tryptophan 347 residue is conserved among mammalians and vertebrates, and the null variant is believed to lead to a truncated protein with cellular mislocalization. Conclusions: Here, we report the first genetic diagnosis of UVSS‑A in Iran via the successful application of Next‑generation sequencing, which expands our understanding of the molecular pathogenesis of this condition. © 2023 Advanced Biomedical Research | Published by Wolters Kluwer - Medknow.
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