[A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):365-8.
[Article in Chinese]

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.

Conclusion: 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.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics*
  • Base Sequence
  • Case-Control Studies
  • Exons
  • Female
  • Humans
  • Lung Diseases / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Sodium-Phosphate Cotransporter Proteins, Type IIb / genetics*

Substances

  • SLC34A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type IIb