[Clinical features and screening of ACVRL1 gene in II hereditary hemorrhagic telangiectasia].
OBJECTIVE
To analyze the clinical features and pathogenic gene of the patients with hereditary hemorrhagic telangiectasia (HHT).


METHODS
The clinical features of 3 HHT families were collected. And the patients were diagnosed according to clinical diagnostic analyzed criteria of HHT, the ACVRL1 gene screened and the conservation of mutation protein.


RESULTS
Three probands and 1 patient were diagnostic for HHT and 2 patients were suspected. In family I, there was a missense mutation of ACVRL1 gene in c.287A > G on 2 patients, leading to the transferal of amino acids from Asn to Ser at 96(th) place. In family II, there was a missense mutation of c.1271C > T on ACVRL1 in 2 patients, leading to the transfer of amino acids from Pro to Leu at 424(th) place. In family III, there was a deletion mutation of c.147delC on ACVRL1 so as to produce only the former 53 amino acids of ALK1 protein. Through an analysis of multi-species conservation, the mutations were conserved between multiple species. By querying the National Center for Biotechnology Information (NCBI) database, we confirmed that the mutation was not of a single nucleotide polymorphism (SNP).


CONCLUSIONS
The genetic screening of HHT patients may identify their virulence gene. And genetic screening of their offspring is helpful for the early diagnosis and prevention before disease onset.
Department of Otolaryngology Head & Neck Surgery, General Hospital of People's Liberation Army, Beijing 100853, China.
Jing-jie
JJ
Jia
Jing
J
Zhang
Li-dong
LD
Zhao
Xue-jun
XJ
Zhou
Jing
J
Cheng
Hui-jun
HJ
Yuan
Hong-tian
HT
Wang
D030301:Activin Receptors, Type II / Q000235:genetics*; D000368:Aged; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D017384:Sequence Deletion; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics*
C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II