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

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.

SUBMITTER: Miller D

PROVIDER: S-EPMC9543813 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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

Miller Dana D Saeed Azhar A Nelson Andrew C AC Bower Matthew M Aggarwal Anjali A

American journal of medical genetics. Part A 20220422 9

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 ...[more]

PMID: 35451551

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

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

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