Mutation spectrum of Chinese patients with Bartter syndrome
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Yue Han1,2, Yi Lin3, Qing Sun4, Shujuan Wang2, Yanxia Gao5 and Leping Shao1,2
1Central Laboratory, Affiliated Hospital, Qingdao University, Qingdao 266003, P.R. China
2Department of Nephrology, Affiliated Hospital, Qingdao University, Qingdao 266003, P.R. China
3Pediatrics, Affiliated Hospital, Qingdao University, Qingdao 266003, P.R. China
4Department of Nephrology, Qingdao Women and Children's Hospital, Qingdao University, Qingdao 266011, P.R. China
5Department of Nephrology, Qingdao Branch of Qilu Hospital of Shandong University, Qingdao, Shandong 266000, P.R. China
Leping Shao, email: firstname.lastname@example.org
Yanxia Gao, email: email@example.com
Keywords: bartter syndrome; CLCNKB gene; SLC12A1 gene; BSND gene; genotype and phenotype
Received: June 27, 2017 Accepted: August 29, 2017 Published: September 27, 2017
Objective: Bartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and treatment.
Methods: Identify mutations by the next generation sequencing and the multiplex ligation-dependent probe amplification (MLPA). Clinical characteristics and biochemical findings at the first presentation as well as follow-up were reviewed.
Results: 15 different CLCNKB gene mutations were identified in fourteen patients with BS, including 11 novel ones. A novel missense mutation and a novel small deletion were found from SLC12A1 gene. A novel gross deletion was found in CLCNKA gene. A recurrent missense mutation was identified from BSND gene. We found that the whole gene deletion mutation of CLCNKB gene was the most frequent mutation (32%), and the rate of gross deletion was up to 50 percent in this group of Chinese patients.
Conclusion: The present study has found 19 mutations, including 14 novel ones, which would enrich the human gene mutation database (HGMD) and provide valuable references to the genetic counseling and diagnosis of the Chinese population.
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