{"doi":"10.1055/s-0040-1718910","title":"Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation","abstract":"<jats:title>Abstract</jats:title><jats:p>Next-generation sequencing is increasingly applied during the diagnostic work-up of patients with bleeding diathesis and has facilitated the diagnosis of rare bleeding disorders such as inherited platelet function disorders. Mutations in RAS guanyl releasing protein 2 (RasGRP2), also known as calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I (CalDAG-GEFI), underlie a recently described platelet signal transduction abnormality. Here we present the case of a consanguineous family originating from Afghanistan with two siblings affected by recurrent severe mucocutaneous bleedings. Platelet function testing demonstrated a marked reduction of aggregation induced by collagen and adenosine diphosphate. Whole exome sequencing revealed a novel homozygous nonsense RASGRP2 mutation segregating with the bleeding disorder in the family.</jats:p>","journal":"TH Open","year":2020,"id":662796,"datarank":0.24141568686511508,"base_score":1.6094379124341003,"endowment":1.6094379124341003,"self_citation_contribution":0.24141568686511508,"citation_network_contribution":0.0,"self_endowment_contribution":0.24141568686511508,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1730363,"name":"Nadja Lucas","orcid":null,"position":1,"is_corresponding":false},{"id":1730366,"name":"Franziska Boiti","orcid":null,"position":2,"is_corresponding":false},{"id":138625,"name":"Karina Althaus","orcid":null,"position":3,"is_corresponding":false},{"id":1730370,"name":"Oliver Tiebel","orcid":null,"position":4,"is_corresponding":false},{"id":350245,"name":"Mingyan Fang","orcid":"0000-0001-7185-6445","position":5,"is_corresponding":false},{"id":1206977,"name":"Reinhard Berner","orcid":"0000-0002-6216-9173","position":6,"is_corresponding":false},{"id":1730374,"name":"Min Ae Lee-Kirsch","orcid":null,"position":7,"is_corresponding":false},{"id":1580865,"name":"Ralf Knöfler","orcid":null,"position":8,"is_corresponding":false},{"id":846369,"name":"Julia Körholz","orcid":"0000-0001-6313-4434","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation","abstract":"<jats:title>Abstract</jats:title><jats:p>Next-generation sequencing is increasingly applied during the diagnostic work-up of patients with bleeding diathesis and has facilitated the diagnosis of rare bleeding disorders such as inherited platelet function disorders. Mutations in RAS guanyl releasing protein 2 (RasGRP2), also known as calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I (CalDAG-GEFI), underlie a recently described platelet signal transduction abnormality. Here we present the case of a consanguineous family originating from Afghanistan with two siblings affected by recurrent severe mucocutaneous bleedings. Platelet function testing demonstrated a marked reduction of aggregation induced by collagen and adenosine diphosphate. 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