A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III

作者：Dong Yan; Ji Gang; Feng Qi-wen; Zeng Xian-ting; Jiang Geng-ru^*

来源：Chinese Medical Journal, 2010, 123(21): 3151-3153.

DOI：10.3760/cma.j.issn.0366-6999.2010.21.037

• Bartter syndrome
• CLCNKB
• mutation

Bartter syndrome type III is a Bartter syndrome subtype, which has a group of autosomal-recessive inherited disorders with clinical characteristics such as renal salt wasting, hypokalemic metabolic alkalosis, elevated renin and aldosterone levels, with normal or low blood pressure.(1) Unlike other subtypes that often begin in the neonatal period, type III, due to mutations in the CLCNKB gene,(2-4) is highly variable and usually presents as a "classic" Barrter variant characterized by an onset in early childhood and less severe or absent hypercalciuria and nephrocalcinosis.(3) @@@ In patients with Banter syndrome type III there have been over than 20 homozygous or heterozygous mutations in the CLCNKB gene reported. Most of those mutations were missense, some of them were nonsense, several base insertions/deletions, large deletions and splicing site mutations.(2-4) Here, we described a novel splicing mutation in the CLCNKB gene in one patient with Bartter syndrome type III.

• 出版日期2010-11-5
• 单位上海交通大学