Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia. Issue 4 (May 2019)

• Record Type: Journal Article
• Authors: Cifaldi, Cristina; Serafinelli, Jessica; Petricone, Davide; Brigida, Immacolata; Di Cesare, Silvia; Di Matteo, Gigliola; Chiriaco, Maria; De Vito, Rita; Palumbo, Giuseppe; Rossi, Paolo; Palma, Paolo; Cancrini, Caterina; Aiuti, Alessandro; Finocchi, Andrea
• Is Part Of: Journal of pediatric hematology/oncology. Volume 41:Issue 4(2019)
• Publication Date: 2019-05
• Subjects: neutropenia -- JAGN1 -- next-generation sequencing; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001256
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : Background: Jagunal homolog 1 (JAGN1) gene was identified as a novel responsible for severe congenital neutropenia. The protein encoded by this gene is required for neutrophil differentiation, survival and function in microbial activity. JAGN1-deficient human neutrophils are characterized by alterations in trafficking within the endoplasmic reticulum and golgi compartments because of ultrastructural defects in endoplasmic reticulum and susceptibility to apoptosis. Observations: We report a patient exhibiting an intermittent neutropenia, for which a next-generation sequencing revealed a homozygous mutation in the JAGN1 gene. Conclusions: The patient extends the clinical variability associated to JAGN1 mutations, and this case highlights the importance of genetic investigations in patients with suspected neutropenia.