Third reported patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings.
Am J Med Genet A
; 188(9): 2808-2814, 2022 09.
Article
in En
| MEDLINE
| ID: mdl-35451551
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Thrombocytopenia
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2022
Document type:
Article
Affiliation country:
Estados Unidos