Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia

2011 ◽  
Vol 57 (3) ◽  
pp. 514-515 ◽  
Author(s):  
Bhuvana A. Setty ◽  
Nicholas D. Yeager ◽  
Rajinder P. Bajwa
Keyword(s):  
Gene Mutation ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia

A Novel G6PC3 Gene Mutation in a Patient With Severe Congenital Neutropenia

2013 ◽  
Vol 35 (2) ◽  
pp. e81-e83 ◽  
Author(s):  
Caner Aytekin ◽  
Manuela Germeshausen ◽  
Nilden Tuygun ◽  
Figen Dogu ◽  
Aydan Ikinciogullari
Keyword(s):  
Gene Mutation ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia

scholarly journals Severe congenital neutropenia with elastase, neutrophil expressed ( ELANE ) gene mutation in a Tanzanian child

2021 ◽  
Author(s):  
Aika Shoo ◽  
Peter Swai ◽  
Christine Kindole ◽  
Editruda Ngailo ◽  
Evance Godfrey ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Tanzanian Child

scholarly journals Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review

2019 ◽  
Vol 09 (03) ◽  
pp. 203-206
Author(s):  
Yue Jia ◽  
Changjun Yue ◽  
Kathryn Bradford ◽  
Xin Qing ◽  
Eduard H. Panosyan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Complete Blood Count ◽  
Delayed Diagnosis ◽  
Severe Neutropenia ◽  
Molecular Testing ◽  
Sequencing Analysis ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Maturation Arrest ◽  
Direct Dna Sequencing

AbstractSevere neutropenia is defined as an absolute neutrophil count (ANC) of less than 0.5 × 109/L. Severe congenital neutropenia (SCN) is an inborn disorder with maturation arrest of granulocytes due to various genetic abnormalities, which may lead to immunodeficiency. Among several associated genetic mutations, the variants or heterozygous mutations of the ELANE gene coding neutrophil elastase comprise approximately 50% of the genetic causes of SCN. We present a newborn (male) with severe neutropenia due to a novel ELANE gene mutation. The newborn was born at 386/7 weeks gestation to a 25-year-old mother with hypertension and morbid obesity. Pregnancy and delivery were uncomplicated but the baby obtained a complete blood count (CBC) on day of life 2 for a work up of hyperbilirubinemia. He was noted to initially have an ANC of 0.2 × 109/L and 0 on subsequent blood counts. A bone marrow biopsy showed a left shift and consistent with myeloid maturation arrest. In direct DNA sequencing analysis, we found an ELANE gene mutation (Val119Glu, V119E), which may be a new gene mutation to cause SCN. The diagnosis of SCN in newborns is usually based on neutropenia identified on a routine CBC. Sufficient awareness and high suspicion of this rare disease can prevent missed or delayed diagnosis of SCN. Our analysis also suggests a new pathological mutation in the ELANE gene and supports the important role of molecular testing in SCN.

Novel Gene Mutation in a Chinese Boy with Severe Congenital Neutropenia

2018 ◽  
Vol 85 (10) ◽  
pp. 916-917 ◽  
Author(s):  
Tingting Zou ◽  
Jianjun Deng ◽  
Min Shu ◽  
Qin Guo ◽  
Ruixue Miao ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Novel Gene

Update On the Risk of Leukemia in Genetic Subgroups of Congenital Neutropenia (CN): Comparison of Patients with Known Gene Mutations (ELA2, HAX1, WASP, G6PC3, p14).

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 3597-3597
Author(s):  
Cornelia Zeidler ◽  
Jean Donadieu ◽  
Audrey Anna Bolyard ◽  
Peter Vandenberghe ◽  
Gusal Pracht ◽  
...  
Keyword(s):  
At Risk ◽  
Gene Mutation ◽  
Mutational Analysis ◽  
Conflicts Of Interest ◽  
Gene Mutations ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Leukemic Transformation ◽  
Increased Risk ◽  
Genetic Subtype

Abstract Abstract 3597 Poster Board III-534 An increased risk for malignant transformation (MDS or leukemia) is well documented in patients with congenital neutropenia (CN). In this study we assessed the incidence of leukemic transformation and potential risk factors for leukemic transformation in CN patients with known gene mutations, e.g. ELA2, HAX1, G6PC3, p14, WAS or no identified mutation, respectively, by combining all available data from the European and US Branches of the Severe Chronic Neutropenia Registry (SCNIR) and the French Neutropenia Registry (FR). Data from mutational analysis were available for 407 patients. Mutations were identified in 259 CN patients, of whom 209 patients revealed ELA2 mutations, 20 HAX1 mutations, 18 WAS, 8 G6PC3 and 4 p14 mutations. In addition, in 57 patients neither ELA2 nor HAX 1 mutation were detectable and in another 91 patients ELA2 mutations could be excluded, but further genetic evaluation is not yet completed. Secondary malignancies occurred in 50 of the 407 CN patients. The distribution by genetic subtype is shown in the table below: CN subtype by gene mutation Total patient number (n) MDS/Leukemia (n/%) ELA2-CN 209 31 (14. 8%) HAX1-CN 20 4 (20%) ELA2 neg + HAX1 neg 57 6 (10.5%) ELA2 neg/ HAX1 not tested 91 5 (5.5%) WAS 18 4 (22.2%) G6PC3 8 0 p14 4 0 Total 407 50 (12.3%) All subgroups benefit from G-CSF treatment. Median G-CSF maintenance doses required during the years prior to leukemic transformation compared by genetic subtype is shown in the following table 2: CN subtype by gene mutation Without leukemia (n) Median G-CSF dose (μg/kg/d) With leukemia (n) Median G-CSF dose (μg/kg/d) ELA2-CN 75 5.0 15 15 HAX1-CN 15 5.0 4 13.4 ELA2-/HAX1- 36 7.2 4 10.5 WAS 15 2.6 4 3.0 G6PC3 8 3.9 0 na p14 4 5.1 0 na Conclusion Patients with severe congenital neutropenia who have mutations in ELA2, HAX1, or WAS and also those with no recognized mutation are at risk of secondary leukemia. So far, progression to MDS leukemia has not yet been described in the small number G6PC3 or p14 CN cases in our database. ELA2-CN or HAX1-CN patients requiring higher doses of G-CSF are at greater risk. Mutational analysis is helpful to identify the genetic cause of severe congenital neutropenia but does not serve to identify patients at risk of leukemic transformation. Disclosures: No relevant conflicts of interest to declare.

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations

2010 ◽  
Vol 169 (6) ◽  
pp. 661-666 ◽  
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Abdullah Al-Jefri ◽  
Fouad Al-Dayel ◽  
Jalaluddin A. K. M. Bhuiyan ◽  
Hala A. Abalkhail ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neurological Manifestations ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia
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