M-Health Fairview, Minneapolis, Minnesota, USA.
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA.
Am J Med Genet A. 2022 Sep;188(9):2808-2814. doi: 10.1002/ajmg.a.62760. Epub 2022 Apr 22.
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.
RAP1B 是一种参与多种细胞过程的 RAS 超家族小 GTP 结合蛋白。该基因的致病性功能获得性变异与 RAP1B 相关综合征性血小板减少症有关，这是一种极罕见的疾病，其特征是血液学异常、神经发育迟缓、生长迟缓以及心血管、泌尿生殖、神经和骨骼系统等先天性出生缺陷。我们报告了一例 23 岁男性，其基因组测序发现了一种新的、从头发生的 RAP1B 功能获得性变异。这是第三个报道的病例，扩展了 RAP1B 相关综合征性血小板减少症的分子和表型谱。
