Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.
Sci Rep
; 8(1): 12721, 2018 08 24.
Article
en En
| MEDLINE
| ID: mdl-30143665
ABSTRACT
Congenital hand malformations is rare and characterized by hand deformities. It is highly heterogeneous, both clinically and genetically, which complicates the identification of causative genes and mutations. Recently, targeted next-generation (NGS) sequencing has been successfully used for the detection of heterogeneous diseases, and the use of NGS also has contributed significantly in evaluating the etiology of heterogeneous disease. Here, we employed targeted NGS to screen 248 genes involved in genetic skeletal disorders, including congenital hand malformations. Three pathogenic mutations located in the GJA1, ROR2 and TBX5 genes were detected in three large Chinese families with congenital hand malformations. Two novel mutations were reported, and a known causative mutation was verified in this Chinese population. This is also the first report that the same panel of targeted NGS was employed to perform molecular diagnosis of different subtypes of congenital hand malformations. Our study supported the application of a targeted NGS panel as an effective tool to detect the genetic cause for heterogeneous diseases in clinical diagnosis.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Deformidades Congénitas de la Mano
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Técnicas de Diagnóstico Molecular
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Pueblo Asiatico
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Secuenciación de Nucleótidos de Alto Rendimiento
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Idioma:
En
Revista:
Sci Rep
Año:
2018
Tipo del documento:
Article