Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

Cristina Cifaldi, Jessica Serafinelli, Davide Petricone, Immacolata Brigida, Silvia Di Cesare, Gigliola Di Matteo, Maria Chiriaco, Rita De Vito, Giuseppe Palumbo, Paolo Rossi, Paolo Palma, Caterina Cancrini, Alessandro Aiuti, Andrea Finocchi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
DOIs
Publication statusE-pub ahead of print - Jul 23 2018

Fingerprint

Neutropenia
Endoplasmic Reticulum
Mutation
Neutrophils
Genes
Apoptosis
Survival
Proteins

Cite this

@article{8826ac0c63014a8d938cde57bf46fff8,
title = "Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia",
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.",
author = "Cristina Cifaldi and Jessica Serafinelli and Davide Petricone and Immacolata Brigida and {Di Cesare}, Silvia and {Di Matteo}, Gigliola and Maria Chiriaco and {De Vito}, Rita and Giuseppe Palumbo and Paolo Rossi and Paolo Palma and Caterina Cancrini and Alessandro Aiuti and Andrea Finocchi",
year = "2018",
month = "7",
day = "23",
doi = "10.1097/MPH.0000000000001256",
language = "English",
journal = "Journal of Pediatric Hematology/Oncology",
issn = "1077-4114",
publisher = "Lippincott Williams and Wilkins",

}

TY - JOUR

T1 - Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

AU - Cifaldi, Cristina

AU - Serafinelli, Jessica

AU - Petricone, Davide

AU - Brigida, Immacolata

AU - Di Cesare, Silvia

AU - Di Matteo, Gigliola

AU - Chiriaco, Maria

AU - De Vito, Rita

AU - Palumbo, Giuseppe

AU - Rossi, Paolo

AU - Palma, Paolo

AU - Cancrini, Caterina

AU - Aiuti, Alessandro

AU - Finocchi, Andrea

PY - 2018/7/23

Y1 - 2018/7/23

N2 - 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.

AB - 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.

U2 - 10.1097/MPH.0000000000001256

DO - 10.1097/MPH.0000000000001256

M3 - Article

C2 - 30044346

JO - Journal of Pediatric Hematology/Oncology

JF - Journal of Pediatric Hematology/Oncology

SN - 1077-4114

ER -