Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.
J Clin Pathol
; 67(12): 1099-103, 2014 Dec.
Article
en En
| MEDLINE
| ID: mdl-25271213
ABSTRACT
AIMS:
The causes of intellectual disability, which affects 1%-3% of the general population, are highly heterogeneous and the genetic defect remains unknown in around 40% of patients. The application of next-generation sequencing is changing the nature of biomedical diagnosis. This technology has quickly become the method of choice for searching for pathogenic mutations in rare uncharacterised genetic diseases.METHODS:
Whole-exome sequencing was applied to a series of families affected with intellectual disability in order to identify variants underlying disease phenotypes.RESULTS:
We present data of three families in which we identified the disease-causing mutations and which benefited from receiving a clinical diagnosis Cornelia de Lange, Cohen syndrome and Dent-2 disease. The genetic heterogeneity and the variability in clinical presentation of these disorders could explain why these patients are difficult to diagnose.CONCLUSIONS:
The accessibility to next-generation sequencing allows clinicians to save much time and cost in identifying the aetiology of rare diseases. The presented cases are excellent examples that demonstrate the efficacy of next-generation sequencing in rare disease diagnosis.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Análisis Mutacional de ADN
/
Perfilación de la Expresión Génica
/
Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Idioma:
En
Revista:
J Clin Pathol
Año:
2014
Tipo del documento:
Article