Analysis of AGXT gene mutation in a primary hyperoxaluria type Ⅰ family
10.3760/cma.j.issn.1001-7097.2014.06.003
- VernacularTitle:Ⅰ型原发性高草酸尿症一家系AGXT基因突变分析
- Author:
Yanxia GAO
;
Xiaohui WANG
;
Yanhua LANG
;
Zhanyu ZHOU
;
Jun LIU
;
Yan WANG
;
Leping SHAO
- Publication Type:Journal Article
- Keywords:
Hyperoxaluria,primary;
Pedigree;
Mutation;
AGXT gene
- From:
Chinese Journal of Nephrology
2014;30(6):413-418
- CountryChina
- Language:Chinese
-
Abstract:
Objective To describe the clinical characteristics,and to analyze the AGXT gene mutation in three siblings with primary hyperoxaluria type I (PHI).Methods AGXT gene mutation was analyzed by direct sequencing analysis in this family,and the minor allele status was also tested.One hundred unrelated healthy subjects were also analyzed as controls.Results Three mutations in AGXT were identified in each of three patients including two novel heterozygous missense mutations and one previously reported variant.One mutation was a methionine to leucine substitution at position 49 (p.M49L,c.145A ＞ C) in exon 1,one was an asparagine to isoleucine transition at codon 72 (p.N72I,c.215A ＞ T) in exon 2,and another was a heterozygous nonsense mutation at codon 333 (p.R333*).Both p.M49L and p.R333* occured in cis configuration with the minor allele IVS1 +74 bp.Conclusions Two novel mutations are identified probably in association with PHI,however their pathogenicity and potential molecular mechanisms should be explored by further investigations.This is the first investigation on mutant gene analysis of PHI in China.
