Third reported patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings

Dana Miller, Azhar Saeed, Andrew C. Nelson, Matthew Bower, Anjali Aggarwal

Research output: Contribution to journalArticlepeer-review


RAP1B is a RAS-superfamily small GTP-binding protein involved in numerous cell processes. Pathogenic gain-of-function variants in this gene have been associated with RAP1B-related syndromic thrombocytopenia, an ultrarare disorder characterized by hematologic abnormalities, neurodevelopmental delays, growth delay, and congenital birth defects including cardiovascular, genitourinary, neurologic, and skeletal systems. We report a 23-year-old male with a novel, de novo RAP1B gain-of-function variant identified on genome sequencing. This is the third reported case which expands the molecular and phenotypic spectrum of RAP1B-related syndromic thrombocytopenia.

Original languageEnglish (US)
Pages (from-to)2808-2814
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number9
StatePublished - Sep 2022

Bibliographical note

Funding Information:
The authors of this paper would like to thank the patient and his family for their participation in this report.

Publisher Copyright:
© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.


  • MAPK pathway dysregulation
  • RAP1B p.Ala59Gly
  • RASopathies
  • syndromic thrombocytopenia

PubMed: MeSH publication types

  • Case Reports


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