Study on CLCNKB gene mutation in a late-onset Chinese patient with classic Bartter syndrome / 中华肾脏病杂志
Chinese Journal of Nephrology
; (12): 598-602, 2010.
Article
en Zh
| WPRIM
| ID: wpr-383358
Biblioteca responsable:
WPRO
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.
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Base de datos:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Nephrology
Año:
2010
Tipo del documento:
Article