Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Br J Haematol
; 182(2): 251-258, 2018 07.
Article
en En
| MEDLINE
| ID: mdl-29797310
ABSTRACT
Establishing a precise diagnosis is essential in inborn haematological cytopenias to enable appropriate treatment decisions and avoid secondary organ damage. However, both diversity and phenotypic overlap of distinct disease entities may make the identification of underlying genetic aetiologies by classical Sanger sequencing challenging. Instead of exome sequencing, we established a systematic next generation sequencing-based panel targeting 292 candidate genes and screened 38 consecutive patients for disease-associated mutations. Efficient identification of the underlying genetic cause in 17 patients (44·7%), including 13 novel mutations, demonstrates that this approach is time- and cost-efficient, enabling optimal management and genetic counselling.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Genes
/
Enfermedades Hematológicas
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Adolescent
/
Adult
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Child
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Child, preschool
/
Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Br J Haematol
Año:
2018
Tipo del documento:
Article
País de afiliación:
Austria