ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of solute carrier family 34 member 2 (SLC34A2) gene in a Chinese family with pulmonary alveolar microlithiasis (PAM).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>