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

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....

Full description

Saved in:
Bibliographic Details
Published inClinical genetics Vol. 105; no. 2; pp. 196 - 201
Main Authors Pardo, Luba M, Aanicai, Ruxandra, Zonic, Emir, Hakonen, Anna H, Zielske, Susan, Bauer, Peter, Bertoli-Avella, Aida M
Format Journal Article
LanguageEnglish
Published Denmark Blackwell Publishing Ltd 01.02.2024
Subjects
Blood Platelets - metabolism
Congenital defects
Humans
rap GTP-Binding Proteins
Retrospective Studies
Thrombocytopenia
Thrombocytopenia - genetics
RAP1B
RAP1B GTPase
syndromic thrombocytopenia
monoallelic variants
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14438