A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.

Ying, Yingfen; Ye, Jinbin; Chen, Yaming; Chen, Qishu; Chen, Yilu; Lu, Xiaosheng; Xi, Haitao; Gu, Feng; Pan, Deng; Zhao, Junzhao

Ying, Yingfen; Ye, Jinbin; Chen, Yaming; Chen, Qishu; Chen, Yilu; Lu, Xiaosheng; Xi, Haitao; Gu, Feng; Pan, Deng; Zhao, Junzhao.

Afiliación

Ying Y; Reproductive Center, Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.
Ye J; Reproductive Center, Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.
Chen Y; School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou, Zhejiang 325027, China.
Chen Q; Reproductive Center, Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.
Chen Y; Reproductive Center, Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.
Lu X; Reproductive Center, Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.
Xi H; Reproductive Center, Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.
Gu F; School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou, Zhejiang 325027, China.
Pan D; School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou, Zhejiang 325027, China. Electronic address: dengpan718@mail.e
Zhao J; Reproductive Center, Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China. Electronic address: z.joyce08@163.com.

Clin Chim Acta ; 526: 14-20, 2022 Feb 01.

Article en En | MEDLINE | ID: mdl-34968504

Asunto(s)

Mosaicismo; Mutación Missense; Preescolar; Síndromes Congénitos de Insuficiencia de la Médula Ósea; Padre; Células Germinativas; Humanos; Elastasa de Leucocito/genética; Masculino; Mutación; Neutropenia/congénito

Palabras clave

CRISSPR/Cas9; ELANE gene mutation; Exome sequencing; Molecular diagnosis; Paternal germline mosaicism; Severe congenital neutropenia

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Mosaicismo Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Clin Chim Acta Año: 2022 Tipo del documento: Article País de afiliación: China

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google