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A splice mutation in RASGRP2 gene in the patient with recurrent epistaxis and nasal vascular malformation.

Platelets - 1 Dec 2024

Shi Zhong-Yu, Lei Qing-Ling, Duan Shao-Qin, Zhou Yan, Cui Ting-Ting, Lin Yun-Bi, Yang Chun-Hui, Song Chun-Yan, Fang Chun-Lian, Tian Xin, Zhang Xian-Wen, Huang Ti-Long

Abstract excerpt

Platelet type bleeding disorder-18 (BDPLT18) caused by mutations of Ras guanyl releasing protein 2 (RASGRP2) is a relatively rare, new autosomal recessive disorder. Here, we reported a splice mutation in RASGRP2 gene in the patient with recurrent epistaxis and nasal vascular malformation. The patient, an 8-year-old girl, suffered from anemia due to frequently severe recurrent epistaxis, requiring regular blood...

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PMID: 39512176
DOI: 10.1080/09537104.2024.2425664

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