Objective: This study was performed to detect and analyse the genes of two Uygur patients with xeroderma pigmentosa (XP) and their families and assess the patients’ phenotypes. Methods: We collected the clinical data of two patients with XP and peripheral blood samples of their family members. The patients’ DNA was sequenced and detected by Sanger sequencing, and gene mutations were screened. Results: We found two genotypes: XPC c.2251-2A>G mutation in one patient and XPA c.631C>T:p.Arg211 in the other patient. Normal individuals in both families were heterozygous, and all patients had homozygous mutations; this was consistent with autosomal recessive inheritance. Conclusion: XP is rare in Uygur patients in Xinjiang, and there are unreported gene mutations in Uygur patients with XP in Xinjiang. We have expanded the mutation spectrum of XP and provided a basis for early diagnosis, treatment, prognostic prediction, and prenatal genetic consultation.