title: Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis.
abstract: BACKGROUND
  Pulmonary alveolar microlithiasis is an autosomal recessive disorder in which microliths are formed in the alveolar space.
  
  
  OBJECTIVE
  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.
  
  
  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 II alveolar cells, and the mutations abolished the normal gene function.
  
  
  CONCLUSIONS
  Mutations in the SLC34A2 gene that abolish normal gene function cause pulmonary alveolar microlithiasis.
authors.affiliation: Departments of Respiratory Medicine, Pathology, and Chest Surgery, Saitama Medical University, Saitama, Japan.
authors.lastname: Huqun
authors.forename: Shinyu
authors.initials: S
authors.lastname: Izumi
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Miyazawa
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Ishii
authors.forename: Bine
authors.initials: B
authors.lastname: Uchiyama
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ishida
authors.forename: Sawako
authors.initials: S
authors.lastname: Tanaka
authors.forename: Ryushi
authors.initials: R
authors.lastname: Tazawa
authors.forename: Shunichiro
authors.initials: S
authors.lastname: Fukuyama
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Tanaka
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Nagai
authors.forename: Akemi
authors.initials: A
authors.lastname: Yokote
authors.forename: Hiroki
authors.initials: H
authors.lastname: Takahashi
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Fukushima
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Chiba
authors.forename: Makoto
authors.initials: M
authors.lastname: Nagata
authors.forename: Susumu
authors.initials: S
authors.lastname: Sakamoto
authors.forename: Koichiro
authors.initials: K
authors.lastname: Nakata
authors.forename: Yuji
authors.initials: Y
authors.lastname: Takebayashi
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Shimizu
authors.forename: Koichi
authors.initials: K
authors.lastname: Kaneko
authors.forename: Michio
authors.initials: M
authors.lastname: Shimizu
authors.forename: Minoru
authors.initials: M
authors.lastname: Kanazawa
authors.forename: Shosaku
authors.initials: S
authors.lastname: Abe
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Inoue
authors.forename: Seiichi
authors.initials: S
authors.lastname: Takenoshita
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Yoshimura
authors.forename: Koichiro
authors.initials: K
authors.lastname: Kudo
authors.forename: Teruo
authors.initials: T
authors.lastname: Tachibana
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Nukiwa
authors.forename: Koichi
authors.initials: K
authors.lastname: Hagiwara
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D020347:Lithiasis / Q000235:genetics* / Q000473:pathology*; D008171:Lung Diseases / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011650:Pulmonary Alveoli / Q000737:chemistry / Q000000981:diagnostic imaging / Q000473:pathology*; D012333:RNA, Messenger / Q000032:analysis; D013902:Radiography, Thoracic; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb / Q000032:analysis / Q000235:genetics*; D014982:Xenopus laevis
chemical_list: D012333:RNA, Messenger; C493557:SLC34A2 protein, human; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb