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

被引：7

作者：

Cifaldi, Cristina ^{[1
]}

Serafinelli, Jessica ^{[1
]}

Petricone, Davide ^{[4
]}

Brigida, Immacolata ^{[5
]}

Di Cesare, Silvia ^{[1
]}

Di Matteo, Gigliola ^{[4
]}

Chiriaco, Maria ^{[1
]}

De Vito, Rita ^{[2
]}

Palumbo, Giuseppe ^{[3
]}

Rossi, Paolo ^{[1
,4
]}

Palma, Paolo ^{[1
]}

Cancrini, Caterina ^{[1
,4
]}

Aiuti, Alessandro ^{[5
,6
,7
]}

Finocchi, Andrea ^{[1
,4
]}

机构：

[1] Childrens Hosp Bambino Gesu, Univ Dept Pediat, Unit Immune & Infect Dis, Rome, Italy

[2] Bambino Gesu Childrens Hosp IRCCS, Dept Pathol & Mol Histopathol, Rome, Italy

[3] Bambino Gesu Pediat Hosp, Univ Dept Pediat, Unit Hematol & Oncol, Rome, Italy

[4] Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy

[5] IRCCS San Raffaele Sci Inst, San Raffaele Telethon Inst Gene Therapy SR TIGET, Milan, Italy

[6] Univ Vita Salute San Raffaele, Milan, Italy

[7] Ist Sci San Raffaele, Pediat Immunohematol, Milan, Italy

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2019年 / 41卷 / 04期

关键词：

neutropenia; JAGN1; next-generation sequencing; CONGENITAL NEUTROPENIA; REFERENCE VALUES; CLASSIFICATION; SUBPOPULATIONS;

D O I：

10.1097/MPH.0000000000001256

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：E266 / E269

页数：4

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