Clinical features and genetic screening of hereditary hemorrhagic telangiectasia.
- VernacularTitle:主动脉夹层相关基因的研究进展
- Author:
Chang LIU
1
;
Yin-xia LV
;
Xiao-dong YANG
;
Yan-hua HUANG
;
Yi LUO
;
Qun YI
Author Information
- Publication Type:Journal Article
- MeSH: Activin Receptors, Type II; genetics; Adolescent; Adult; Amino Acid Sequence; Antigens, CD; genetics; Endoglin; Female; Genetic Testing; Humans; Male; Molecular Sequence Data; Mutation; Receptors, Cell Surface; genetics; Smad4 Protein; genetics; Telangiectasia, Hereditary Hemorrhagic; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2013;30(2):176-179
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze clinical features of 4 families with hereditary hemorrhagic telangiectasia (HHT) and potential mutations of ENG, ACVRL1 and SMAD4 genes.
METHODSFour unrelated HHT patients and their affected family members were analyzed. All exons and flanking regions of ENG, ACVRL1 and SMAD4 genes were analyzed with PCR and direct sequencing and multiplex ligation-dependent probe amplification (MLPA) methods.
RESULTSEleven patients from the 4 families were enrolled in this study. Two ENG and 1 ACVRL1 mutations were identified, among which an ENG mutation (c.207G>A; p.L69L) and an ACVRL1 mutation (c.817C>T; p.L273L) have been previously reported. In addition, a novel ENG mutation (c.1004A>T; p.Q335L) has been found in 3 different families. Similar mutations were not detected in 200 healthy individuals. No mutations of ENG, ACVRL1 and SMAD4 were found in the fourth family.
CONCLUSIONA novel mutation c.1004A>T (p. Q335L) of ENG has been identified in patients with HHT. And there is significant phenotypic variability and genetic heterogeneity with the disease.
