Blood: Mutationand and phenotype characteristics of heedoushexanopathy

Hereditary hemorrhagic capillaryvasculardilation (HHT) is an automost-editability abnormality of autosomal dominant genetics, also known as Babington disease and Goldstein syndromeThe typical lesions are bright red or fuchsia capillaries or small blood vessels dilating in the skin and mucous membranes, causing bleeding in the skin mucous membranes or bleedingdigestiveThe disease is good in middle-aged and middle-aged, both men and women can become illlack of understanding of the correlation between the need for repeated genotype identificationand the correlation between common DNA variants (ENG, ACVRL1, SMAD4, and GDF2) and clinical manifestations hinders the progress of theof Clinicaldiagnosis and treatment of HHTto promote the development of HHT clinical treatment, the researchers analyzed DNA samples from 183 previously undivided, emitted HHT cases and suspected HHT cases using the ThromboGenomics high-throughput sequencing platform, and identified 168 heterogenesis mutations, 127 of which were uniqueAccording to the revised ACMG guidelines, 106 mutations are classified as pathogenic/pathogenic and 21 are non-pathogenic (unclearorify or benign mutations)unlike the protein products of ACVRL1 and SMAD4, extracellular ENG amino acids are not highly conservativeTherefore, the researchers' inferences about the functional consequences of THE ENG mutation are based on the crystalstructure of endothelial glycoproteinsthen, the researchers used two methods to compare the accuracy of genetic data predictions: subjective clinical predictions and statistical predictions based on eight human phenotype ontological (HPO) termsBoth methods have some predictive power, but they are not accurate enough to separate them from genetic testing for clinical useThe red blood cell index distribution from larger HHT and control populations varies with disease-causing genes, but is not sufficient for clinical isolation of genetic datain general, in order to better predict and treat HHT, four known HHT genes need to be sequenced;