Abstract
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 language | English (US) |
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Pages (from-to) | 2808-2814 |
Number of pages | 7 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 188 |
Issue number | 9 |
DOIs | |
State | Published - 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.
Keywords
- MAPK pathway dysregulation
- RAP1B p.Ala59Gly
- RASopathies
- syndromic thrombocytopenia