Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants

Colombo E. A., Elcioglu N. H., Graziano C., Farinelli P., Di Fede E., Neri I., ...Daha Fazla

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.38, sa.4, ss.494-502, 2018 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1007/s10875-018-0508-9
  • Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.494-502
  • Anahtar Kelimeler: Poikiloderma with neutropenia, USB1, transcript analysis, disease phenotype, cancer predisposition, CLERICUZIO-TYPE POIKILODERMA, ROTHMUND-THOMSON-SYNDROME, SMALL NUCLEAR-RNA, DYSKERATOSIS-CONGENITA, C16ORF57 MUTATION, GENE, PHENOTYPE, SIBLINGS, FAMILY
  • Marmara Üniversitesi Adresli: Evet

Özet

Poikiloderma with neutropenia (PN) is a genodermatosis currently described in 77 patients, all presenting with early-onset poikiloderma, neutropenia, and several additional signs. Biallelic loss-of-function mutations in USB1 gene are detected in all molecularly tested patients but genotype-phenotype correlation remains elusive. Cancer predisposition is recognized among PN features and pathogenic variants found in patients who developed early in life myelodysplasia (n = 12), acute myeloid leukemia (n = 2), and squamous cell carcinoma (n = 2) should be kept into account in management and follow-up of novel patients. This will hopefully allow achieving data clustered on specific mutations relevant to oncological surveillance of the carrier patients.