Mutations in the SLC34A2 Gene are Associated with the Pulmonary Alveolar Microlithiasis.

Am J Respir Crit Care Med. 2006 Nov 9;

Authors: Huqun , Izumi S, Miyazawa H, Ishii K, Uchiyama B, Ishida T, Tanaka S, Tazawa R, Fukuyama S, Tanaka T, Nagai Y, Yokote A, Takahashi H, Fukushima T, Kobayashi K, Chiba H, Nagata M, Sakamoto S, Nakata K, Hagiwara K

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 a genome-wide SNP analysis using DNA from 3 patients, we have narrowed the region where the candidate gene is located. From which we have identified a gene that has mutations in all patients. MEASUREMENTS AND MAIN RESULTS: We identified a candidate gene SLC34A2 that encodes a type IIb sodium phosphate cotransporter is mutated in six of six patients investigated. SLC34A2 is specifically expressed in the type II 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.

PMID: 17095743 [PubMed - as supplied by publisher]