Dorsaf Ghalloussi

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Since the discovery that mutations in the 59 untranslated region (UTR) of ANKRD26 are responsible for an autosomal-dominant form of thrombocytopenia (ANKRD26-RT), 21 affected families were reported. A study analyzing this series of patients suggested that ANKRD26-RT is characterized by normal platelet size, moderate thrombocytopenia, and absent or mild(More)
The nature of an inherited platelet disorder was investigated in three siblings affected by severe bleeding. Using whole-exome sequencing, we identified the culprit mutation (cG742T) in the RAS guanyl-releasing protein-2 (RASGRP2) gene coding for calcium- and DAG-regulated guanine exchange factor-1 (CalDAG-GEFI). Platelets from individuals carrying the(More)
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five are(More)
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