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Bastida, José M; Lozano, María L; Benito, Rocío; Janusz, Kamila; Palma-Barqueros, Verónica; Del Rey, Mónica; Hernández-Sánchez, Jesús M; Riesco, Susana; Bermejo, Nuria; González-García, Hermenegildo; Rodriguez-Alén, Agustín; Aguilar, Carlos; Sevivas, Teresa; López-Fernández, María F; Marneth, Anna E; van der Reijden, Bert A; Morgan, Neil V; Watson, Steve P; Vicente, Vicente; Hernández-Rivas, Jesús M; Rivera, José; González-Porras, José R
Haematologica (Roma), 01/2018, Letnik: 103, Številka: 1Journal Article
Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until recently, this diagnosis has usually been performed Sanger sequencing of a limited number of candidate genes. High-throughput sequencing is revolutionizing the genetic diagnosis of diseases, including bleeding disorders. We have designed a novel high-throughput sequencing platform to investigate the unknown molecular pathology in a cohort of 82 patients with inherited platelet disorders. Thirty-four (41.5%) patients presented with a phenotype strongly indicative of a particular type of platelet disorder. The other patients had clinical bleeding indicative of platelet dysfunction, but with no identifiable features. The high-throughput sequencing test enabled a molecular diagnosis in 70% of these patients. This sensitivity increased to 90% among patients suspected of having a defined platelet disorder. We found 57 different candidate variants in 28 genes, of which 70% had not previously been described. Following consensus guidelines, we qualified 68.4% and 26.3% of the candidate variants as being pathogenic and likely pathogenic, respectively. In addition to establishing definitive diagnoses of well-known inherited platelet disorders, high-throughput sequencing also identified rarer disorders such as sitosterolemia, filamin and actinin deficiencies, and G protein-coupled receptor defects. This included disease-causing variants in (n=2) and (n=3). Our study reinforces the feasibility of introducing high-throughput sequencing technology into the mainstream laboratory for the genetic diagnostic practice in inherited platelet disorders.
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