Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

ABSTRACT:

Background

Noonan syndrome is an autosomal dominant developmental disorder with a high phenotypic variability, which shares clinical features with other rare conditions, including LEOPARD syndrome, cardiofaciocutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. This group of related disorders, so-called RASopathies, is caused by germline mutations in distinct genes encoding for components of the RAS-MAPK signalling pathway. Due to high number of genes associated with these disorders, standard diagnostic testing requires expensive and time consuming approaches using Sanger sequencing. In this study we show how targeted Next Generation Sequencing (NGS) technique can enable accurate, faster and cost-effective diagnosis of RASopathies.

Methods

SUBMITTER: Lepri FR 

PROVIDER: S-EPMC3915031 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature