A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis

Abstract

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in <i>SLC34A2</i> and characterized by intra-alveolar accumulation of microliths. We diagnosed a case of PAM in a 27-year-old Japanese female and identified a novel mutation in <i>SLC34A2</i> (c.1390 G>C [G464R] in exon 12).