The British journal of dermatology · 2026
Genotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Baskurt Defne, Altıner Şule, Atcı Tuğba, Akay Bengü Nisa, Duman Nilay, Engin Burhan, Botsalı Ayşenur, Yazıcı Serkan, Duz Mehmet Bugrahan, Adışen Esra, Özdemir İrem, Aksu Arıca Deniz, Baykal Selçuk Leyla, Kaderi Pınar, Aykut Ayça, Topkarcı Zeynep, Durmaz Asude, Gürsel Ürün Yıldız, Erdemir Vefa Aslı, Bulut Demir Ferhan, Karaarslan Işıl, Yücelten Deniz, Ersoy Evans Sibel, Vural Seçil
Аннотация
BACKGROUND: Xeroderma pigmentosum (XP) is a rare DNA damage repair disorder. Seven distinct complementation groups and an XP variant form have been identified; however, limited literature exists on the genotype-phenotype correlation in XP.
OBJECTIVES: To explore the manifestations of XP variants in patients from Türkiye.
METHODS: Our multicentric investigation involved 69 patients with XP from 52 unrelated families across 12 centres in Türkiye. Clinical examinations and genetic tests were conducted to assess the correlation between variants and disease characteristics.
RESULTS: Of the XP groups, XP-C was the most prevalent (n = 38; 55%), followed by XP-variant (n = 15; 22%), XP-E (n = 8; 12%), XP-D (n = 4; 6%), XP-A (n = 3; 4%) and XP-G (n = 1; 1%). XP-B and XP-F were not identified. Median patient age at diagnosis was 9 years (interquartile range 2-19), although this varied significantly according to complementation group, with XP-D and XP-V diagnoses occurring later. Genetic analyses revealed 30 novel variants, including one in a patient with XP/Cockayne syndrome complex. Despite the link of XP-D to neurological degeneration, none of the patients showed neuropathy, while three patients with XP-E had neurological involvement. Notably, 26% (n = 18) of patients reported no consanguinity, yet a significant proportion (n = 11/18) had distant family members with XP.
CONCLUSIONS: We found unique clinical patterns and diversity among complementation groups in Turkish patients with XP. Future investigations should focus on functional characterization of the novel variants, preferably through assays like unscheduled DNA synthesis, to determine their potential impact on DNA repair mechanisms and their implications for improved patient care.
OBJECTIVES: To explore the manifestations of XP variants in patients from Türkiye.
METHODS: Our multicentric investigation involved 69 patients with XP from 52 unrelated families across 12 centres in Türkiye. Clinical examinations and genetic tests were conducted to assess the correlation between variants and disease characteristics.
RESULTS: Of the XP groups, XP-C was the most prevalent (n = 38; 55%), followed by XP-variant (n = 15; 22%), XP-E (n = 8; 12%), XP-D (n = 4; 6%), XP-A (n = 3; 4%) and XP-G (n = 1; 1%). XP-B and XP-F were not identified. Median patient age at diagnosis was 9 years (interquartile range 2-19), although this varied significantly according to complementation group, with XP-D and XP-V diagnoses occurring later. Genetic analyses revealed 30 novel variants, including one in a patient with XP/Cockayne syndrome complex. Despite the link of XP-D to neurological degeneration, none of the patients showed neuropathy, while three patients with XP-E had neurological involvement. Notably, 26% (n = 18) of patients reported no consanguinity, yet a significant proportion (n = 11/18) had distant family members with XP.
CONCLUSIONS: We found unique clinical patterns and diversity among complementation groups in Turkish patients with XP. Future investigations should focus on functional characterization of the novel variants, preferably through assays like unscheduled DNA synthesis, to determine their potential impact on DNA repair mechanisms and their implications for improved patient care.