Work

Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia

Year: 2023

Type: article

Abstract: Syndromic constitutive thrombocytopenia encompasses a heterogeneous group of disorders characterised by quantitative and qualitative defects of platelets while featuring other malformations. Recently, heterozygous, de novo variants in RAP1B were reported in three cases of syndromic thrombocytopenia. Here, we report two additional, unrelated individuals identified retrospectively in our data repository with heterozygous variants in RAP1B: NM_001010942.2(RAP1B):c.35G>A, p.(Gly12Glu) (de novo) and NM_001010942.2(RAP1B):c.178G>A, p.(Gly60Arg). Both individuals had thrombocytopenia, as well as congenital malformations, and neurological, behavioural, and dysmorphic features, in line with previous reports. Our data supports the causal role of monoallelic RAP1B variants that disrupt RAP1B GTPase activity in syndromic congenital thrombocytopenia.

Source: Clinical Genetics

DOI: 10.1111/cge.14438

Authors: Luba M. Pardo, Ruxandra Aanicai, Emir Zonic, Anna H. Hakonen, Susan Zielske, Peter Bauer, Aida M. Bertoli‐Avella

Institutions: Centogene (Germany), University of Helsinki, Helsinki University Hospital, Hospital District of Helsinki and Uusimaa, Universitätsmedizin Rostock, University of Rostock

Language: English

Topic: Platelet Disorders and Treatments

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4387728629

FWCI: 1.125

Cites: 15

Cited by: 6

Related to: 10