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

Autor: Zhong-Yu Shi, Qing-Ling Lei, Shao-Qin Duan, Yan Zhou, Ting-Ting Cui, Yun-Bi Lin, Chun-Hui Yang, Chun-Yan Song, Chun-Lian Fang, Xin Tian, Xian-Wen Zhang, Ti-Long Huang
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Platelets, Vol 35, Iss 1 (2024)
Druh dokumentu: article
ISSN: 09537104
1369-1635
0953-7104
DOI: 10.1080/09537104.2024.2425664
Popis: 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 transfusions every 2–3 months. Hematological investigations showed moderate anemia (Hb: 89 g/L), normal platelet count, morphology, and platelet glycoproteins. Arachidonic acid and adenosine diphosphate induced platelet aggregation was markedly reduced in the patient. A homozygous splice variant (C.74–1 G>C) in RASGRP2 gene, located within the exon 3, was detected by next-generation sequencing. Interestingly, we identified nasal vascular malformation by percutaneous super-selective angiography during the treatment of an intractable epistaxis. Our case further support that genetic testing should be performed for some unexplained bleeding diseases.
Databáze: Directory of Open Access Journals
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