Journal of Cutaneous Immunology and Allergy · Published 2026-03-20 · DOI 10.3389/jcia.2026.16180
Xeroderma pigmentosum (XP) is a disorder that causes sun sensitivity, pigmented spots in sun-exposed areas, and neurological symptoms due to an inborn error in the DNA repair process for damage caused by sun exposure. We report a case with XP type F (XPF) diagnosed in a patient in her 70s. We identified that she was homozygous for a deep intronic variant of ERCC4, NC_000016.10(NM_005236.3): c.207+196T>A. This variant causes aberrant mRNA splicing, which confirmed the diagnosis of XP. Seven cases with the same intronic variant have been reported in Japan. In our case, we independently analyzed the qualitative and quantitative aspects of abnormal mRNA splicing, which had not been reported previously, and found approximately 7.7% of the mRNA retained normal splicing. Furthermore, immunostaining of patient’s skin with anti-ERCC4/XP antibody confirmed that the ERCC4 protein was partially expressed rather than being completely absent. This partial expression was predicted to be associated with the relatively mild phenotype observed in our patient.
Abstract from DOAJ. Public domain (CC0 1.0).
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