Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.
Pediatr Blood Cancer
; 62(12): 2229-31, 2015 Dec.
Article
en En
| MEDLINE
| ID: mdl-26174650
ABSTRACT
Severe congenital neutropenia (SCN) is a bone marrow failure disease with an autosomal dominant inheritance from mutations in ELANE. Here, we report a 7-week-old Korean male with SCN. His elder sister died from pneumonia at 2 years. Direct sequencing of ELANE in the proband identified a heterozygous novel frameshift mutation c.658delC (p.Arg220Glyfs20*). Family study involving his asymptomatic parents with normal cell counts revealed that his father had the same mutation, but at a lower burden than expected in a typical heterozygous state. Further molecular investigation demonstrated somatic mosaicism with ~18% mutant alleles. We concluded the proband inherited the mutation from his somatic mosaic father.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Mutación del Sistema de Lectura
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Elastasa de Leucocito
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Mosaicismo
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Neutropenia
Tipo de estudio:
Prognostic_studies
Límite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
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NEOPLASIAS
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PEDIATRIA
Año:
2015
Tipo del documento:
Article