Study on CLCNKB gene mutation in a late-onset Chinese patient with classic Bartter syndrome
10.3760/cma.j.issn.1001-7097.2010.08.007
- VernacularTitle:成人经典型Bartter综合征家系CLCNKB基因突变的研究
- Author:
Ying YU
;
Xiaoxia PAN
;
Hong REN
;
Weiming WANG
;
Nan CHEN
- Publication Type:Journal Article
- Keywords:
Bartter syndrome;
Mutation;
CLCNKB gene
- From:
Chinese Journal of Nephrology
2010;26(8):598-602
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the underlying mutation in a late-onset Chinese patient with classic Bartter syndrome. Methods The mutation analysis of CLCNKB gene was performed by the PCR direct sequencing. The patient's parents and siblings were studied as well. Fifty normal volunteers were analyzed as control group. Results The heterozygous deletion mutation cDNA 753delG and heterozygous missense mutation G433E were detected in the patient. Her father was found to carry heterozygous G433E and her mother to carry cDNA 753delG mutation respectively. Her brother carried heterozygous G433E and her sister was normal. Conclusions Two mutations of the CLCNKB gene in this Chinese patient with late-onset classic Bartter syndrome are identified. The cDNA 753delG mutation has not been reported previously.
