Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants
Articolo
Data di Pubblicazione:
2018
Citazione:
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants / E.A. Colombo, N.H. Elcioglu, C. Graziano, P. Farinelli, E. Di Fede, I. Neri, E. Facchini, M. Greco, C. Gervasini, L. Larizza. - In: JOURNAL OF CLINICAL IMMUNOLOGY. - ISSN 0271-9142. - (2018 May 16). [Epub ahead of print] [10.1007/s10875-018-0508-9]
Abstract:
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Poikiloderma with neutropenia; USB1; cancer predisposition; disease phenotype; transcript analysis
Elenco autori:
E.A. Colombo, N.H. Elcioglu, C. Graziano, P. Farinelli, E. DI FEDE, I. Neri, E. Facchini, M. Greco, C. Gervasini, L. Larizza
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