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Clinical and genetic analysis of four patients with congenital neutropenia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1222-1225, 2020.
Artigo em Chinês | WPRIM | ID: wpr-879471
ABSTRACT
OBJECTIVE@#To delineate the clinical feature and genetic basis of four patients with congenital neutropenia.@*METHODS@#All patients were subjected to whole exome sequencing (WES). Suspected variants were verified by Sanger sequencing.@*RESULTS@#The patients (two boys and two girls), aged 7 to 15 months, suffered from neutropenia and recurrent infections. Bone marrow smears showed a significant decrease in the proportion of rod-shaped and lobulated granulocytes, which suggested impaired development and maturation of bone marrow neutrophils. WES has discovered heterozygous variants (c.496G>A, c.58C>G, c.391G>A and IVS1+5T>A) of the ELANE gene in the patients. Among these, c.58C>G and IVS1+5T>A were unreported previously. Follow up revealed patients 1 and 3 had periodic neutropenia, while patients 2 and 4 had severe congenital neutropenia. After attaining the definite diagnosis, the patients were treated symptomatically.@*CONCLUSION@#The main clinical feature of congenital neutropenia is refractory recurrent bacterial infections, for which mutations of the ELANE gene are a common cause. Two novel pathogenic ELANE variants have been discovered in this study.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Testes Genéticos / Elastase de Leucócito / Síndrome Congênita de Insuficiência da Medula Óssea / Mutação / Neutropenia Limite: Feminino / Humanos / Lactente / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2020 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Testes Genéticos / Elastase de Leucócito / Síndrome Congênita de Insuficiência da Medula Óssea / Mutação / Neutropenia Limite: Feminino / Humanos / Lactente / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2020 Tipo de documento: Artigo