Smad4 Gene Screening in Patients with Hereditary Hemorrhagic Telangiectasia
JI Lingchao
ZHANG Jing
JIA Jingjie
YOU Shaohua
BAI Yin
WANG Hongtian
Abstract：Objective Screen hereditary hemorrhagic telangiectasia (HHT) patients for Smad4 gene mutation and audio?logical evaluation. Methods According to the clinical diagnostic criteria proposed by Shovlin in 2000, 7 HHT patients with negative ENG and ACVRL1 gene were screened for Smad4 gene mutations and audiological evaluation. Results Smad4 gene mutations were not found in 7 subjects. 2 cases had severe epistaxis and hepatic vascular malformations. All 7 patients did not have hearing loss ,gastrointestinal bleeding or intestinal polyps. Conclusion The correlation among Smad4 gene, HHT and deafness is worth further research. That may provide new insight into pathogenesis and treatment for the disease.
Keywords：Smad4 geneHearing lossHereditary hemorrhagic telangiectasia
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 319-321 )