UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan

UV-sensitive syndrome (UVSS) is a rare disorder resulting from defects in the nucleotide excision repair (NER) system. UVSS is characterised by photosensitivity, pigmentation anomalies in sun exposed areas, and the absence of tumors in the skin and internal organs. Affected patients display normal growth, and intellectual development, and life-span. Cutaneous expression in UVSS resembles that of a mild xeroderma pigmentosum (XP) phenotype [1]. At the cellular level, cultured fibroblasts from UVSS patients show similarities to Cockayne syndrome (CS) cells in terms of response to UV irradiation, including increased sensitivity, normal UV-induced DNA repair synthesis, and reduced recovery of RNA synthesis (RRS) [2,3].

Source: Journal of Dermatological Science - August 8, 2019 Category: Dermatology Authors: Ambreen Ijaz, Sabrina Wolf, Safur Rehman Mandukhail, Sulman Basit, Regina C. Betz, Abdul Wali Source Type: research