TürkiyeResearch and clinical trials
69 xeroderma pigmentosum patients from 12 centers studied in Türkiye; 30 new gene changes found
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Türkiye, 12 centers jointly studied 69 patients from 52 families. The most common subtype was XP-C, seen in 55% of patients. The median age at diagnosis was 9 years. This age varied by subtype. The team found 30 new gene changes. In 26% of patients, the mother and father were not related. But in 11 of these 18 patients, a distant relative had the same disease.
What does it mean for patients and families?
This study shows which subtypes are common among patients in Türkiye. The subtype can affect the follow-up plan. Ask your doctor about genetic testing and family counseling.
Source
Scientific paper: Genotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study. The British Journal of Dermatology, 2026. DOI: 10.1093/bjd/ljaf533 · PubMed 41483010
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Xeroderma pigmentosum (XP)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.