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Zhonghua Yi Xue Za Zhi. 2012 Apr 24;92(16):1107-11.

[Clinical features and screening of ACVRL1 gene in II hereditary hemorrhagic telangiectasia].

[Article in Chinese]

Author information

1
Department of Otolaryngology Head & Neck Surgery, General Hospital of People's Liberation Army, Beijing 100853, China.

Abstract

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).

CONCLUSION:

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.

PMID:
22781769
[Indexed for MEDLINE]

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