title: [A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis].
abstract: OBJECTIVE
  To identify the mutation of solute carrier family 34 member 2 (SLC34A2) gene in a Chinese family with pulmonary alveolar microlithiasis (PAM).
  
  
  METHODS
  Genomic DNA was extracted from the family members. DNA sequencing was carried out to confirm the mutation detected by polymerase chain reaction-single strand conformation polymorphisms (PCR-SSCP). The fragments with variation were screened in 100 healthy controls by PCR-SSCP.
  
  
  RESULTS
  In both patients of the family, a homozygous mutation of the SLC34A2 gene was identified in exon 8 (c.A910T), resulting in a premature stop codon. In addition, a homozygous single nucleotide polymorphism (SNP) was found in intron 2 in both patients and the daughter of proband.
  
  
  CONCLUSIONS
  A novel homozygous mutation in SLC34A2 gene, leading to a premature stop codon therefore a truncated protein, was probably responsible for the PAM in this family. The SNP in intron 2 needs further study.
authors.affiliation: Department of Respiratory Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P.R. China.
authors.forename: You-qing
authors.initials: YQ
authors.lastname: Zhong
authors.forename: Cheng-ping
authors.initials: CP
authors.lastname: Hu
authors.forename: Xing-dong
authors.initials: XD
authors.lastname: Cai
authors.forename: Hua-ping
authors.initials: HP
authors.lastname: Nie
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb / Q000235:genetics*
chemical_list: C493557:SLC34A2 protein, human; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb