Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.

Date publication

août 2020

Journal

Transfusion

Auteurs

Membres identifiés du Cancéropôle Est :
Dr GACHET Christian

Tous les auteurs :
Guéguen P, Dupuis A, Py JY, Desprès A, Masson E, Le Marechal C, Cooper DN, Gachet C, Chen JM, Férec C

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/32757236

Résumé

Thrombocytopenia has a variety of different etiologies, both acquired and hereditary. Inherited thrombocytopenia may be associated with other symptoms (syndromic forms) or may be strictly isolated. To date, only about half of all the familial forms of thrombocytopenia have been accounted for in terms of well-defined genetic abnormalities. However, data are limited on the nature and frequency of the underlying causative genetic variants in individuals with mild isolated nonsyndromic thrombocytopenia.

Mots clés

gene panel, mild isolated non-syndromic thrombocytopenia, missense variants, next generation sequencing, pathogenicity prediction, platelet count

Référence

Transfusion. 2020 Aug 5;: