The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Acta Derm Venereol
; 98(4): 437-440, 2018 Apr 16.
Article
em En
| MEDLINE
| ID: mdl-29242947
ABSTRACT
The precise classification of epidermolysis bullosa (EB) into 4 main types and more than 30 subtypes is based on the level of skin cleavage, as well as clinical and molecular features, and is crucial for early prognostication, case management, genetic counselling and prenatal or pre-implantation diagnosis. We report here the molecular pathology of 40 consecutive cases of suspected EB, which were investigated by immunofluorescence mapping (IFM) and/or by a targeted next-generation sequencing (NGS) multi-gene panel. IFM correctly established the EB subtype in 76% of cases, while the molecular pathology was completely elucidated in 90% of cases by the targeted NGS multi-gene panel. Thirteen previously unreported mutations in EB genes were identified. In cases with unclear clinical and IFM findings, mutations were found by NGS in previously unexpected genes. IFM was useful in delivering fast results in newborns, and in indicating the consequences of the variants of uncertain significance on protein level. This study underscores the efficacy of the strategy of combining targeted NGS with IFM in resolving unusual EB phenotypes. It also suggests that, despite technological advances, careful clinical evaluation and deep phenotyping remains a crucial factor that dictates successful diagnosis of EB.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
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Epidermólise Bolhosa
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Técnicas de Diagnóstico Molecular
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Sequenciamento de Nucleotídeos em Larga Escala
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Humans
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Infant
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Middle aged
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Newborn
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article