A novel germline mutation in SMAD4 gene in a hereditary hemorrhagic telangiectasia family

作者：Hao, Changning^*; Qi, Haozhe; Wu, Shengjun; Kan, Kejia; Yang, Shuofei; Guo, Xiangjiang; Lv, Lei; Zhang, Lan^*

来源：International Journal of Clinical and Experimental Medicine, 2017, 10(6): 9649-9653.

• Hereditary hemorrhagic telangiectasia
• mutation
• SMAD4

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by telangiectases, epistaxis and visceral arteriovenous malformations. Recently, germline mutations, including mutations in the ENG, GDF2, ACVRL1 and SMAD4 genes, have been clarified to be involved in HHT patients. Here, we report a HHT family with a novel germline mutation in the SMAD4 gene. A 45-year-old man manifested massive hemoptysis and was angiographically proven to have multiple pulmonary arteriovenous malformations (PAVM). His mother and elder system also had histories of massive hemoptysis due to PAVM rupture. They also manifested mucocutaneous telangiectases and greater frequency of epistaxis. Subsequently, genetic screening in venous blood samples revealed a series of mutations in the 3'UTR of SMAD4 gene, which including 5 site mutations, 1 insertion and 2 deletions. To our knowledge, this mutation has not been previously described. Careful family history collection and genetic screening in suspicious patients are needed to identify HHT, and regular surveillance is recommended.

• 出版日期2017
• 单位上海交通大学