Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis
Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis
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DOI：
10.1164/rccm.200609-1274oc
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发表时间：
2007-02-01
影响因子：
24.7
通讯作者：
Hagiwara, Koichi
中科院分区：
文献类型：
--
作者：
Huqun;Izumi, Shinyu;Hagiwara, Koichi
原理：肺泡微石症是一种常染色体隐性遗传疾病，其中微石形成于肺泡腔。目的：确定负责基因，导致肺泡microolithias.Methods：通过全基因组单核苷酸多态性分析，使用DNA从三个病人，我们已经缩小了该区域中的候选基因位于。从这个区域，我们已经确定了一个基因，在所有患者的突变与肺泡microlithiosis.Measurements和主要结果：我们确定了一个候选基因，SLC34A2，编码IIb型磷酸钠转运蛋白，这是突变的六个患者调查。结论：SLC34A2基因突变导致肺泡微石症的发生是由于SLC34A2基因突变导致正常基因功能丧失所致。
Rationale: Pulmonary alveolar microlithiasis is an autosomal recessive disorder in which microliths are formed in the alveolar space. Objectives: To identify the responsible gene that causes pulmonary alveolar microlithiasis.Methods: By means of a genomewide single-nucleotide polymorphism analysis using DNA from three patients, we have narrowed the region in which the candidate gene is located. From this region, we have identified a gene that has mutations in all patients with pulmonary alveolar microlithiasis.Measurements and Main Results: We identified a candidate gene, SLC34A2, that encodes a type IIb sodium phosphate cotransporter and that is mutated in six of six patients investigated. SLC34A2 is specifically expressed in type 11 alveolar cells, and the mutations abolished the normal gene function.Conclusion: Mutations in the SLC34A2 gene that abolish normal gene function cause pulmonary alveolar microlithiasis.