Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Research Abstract Details 

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Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Abstract Text:

Masanori Adachi,Yumi Asakura,Yoshiaki Sato,Toshihiro Tajima,Takeo Nakajima,Toshiyuki Yamamoto,Kenji Fujieda,

Bartter syndrome (BS) type 1, also referred to antenatal BS, is a genetic tubulopathy with hypokalemic metabolic alkalosis and prenatal onset of polyuria leading to polyhydramnios. It has been shown that BS type 1 is caused by mutations in the SLC12A1 gene encoding bumetanide-sensitive Na-K-2Cl (-) cotransporter (NKCC2). We had the opportunity to care for two unrelated Japanese patients of BS type 1 with typical manifestations including polyhydramnios, prematurity, hypokalemia, alkalosis, and infantile-onset nephrocalcinosis. Analysis of the SLC12A1 gene demonstrated four novel mutations: N117X, G257S, D792fs and N984fs. N117X mutation is expected to abolish most of the NKCC2 protein, whereas G257, which is evolutionary conserved, resides in the third transmembrane domain. The latter two frameshift mutations reside in the intra-cytoplasmic C-terminal domain, which illustrates the importance of this domain for the NKCC2 function. In conclusion, we found four novel SLC12A1 mutations in two BS type 1 patients. Development of effective therapy for hypercalciuria is mandatory to prevent nephrocalcinosis and resultant renal failure.

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Publishing Authors By Initials

M Adachi,Y Asakura,Y Sato,T Tajima,T Nakajima,T Yamamoto,K Fujieda,

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Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Endocrine journal

VOLUME: 54

Page Numbers: 1003-7

Journal Abbreviation: Endocr. J.

ISSN: 1348-4540

DAY: 12

MONTH: 11

YEAR: 2007

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Information

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LANGUAGE: eng

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Grant and Affiliation Information for Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.

AFFILIATION: Department of Endocrinology & Metabolism, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.

Country: Japan

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MEDLINETA: Endocr J

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