A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis

Hiroki Izumi; Jun Kurai; Masahiro Kodani; Masanari Watanabe; Akihiro Yamamoto; Eiji Nanba; Kaori Adachi; Tadashi Igishi; Eiji Shimizu

doi:10.1038/hgv.2016.47

A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis

Hum Genome Var. 2017 Jan 26:4:16047. doi: 10.1038/hgv.2016.47. eCollection 2017.

Authors

Hiroki Izumi¹, Jun Kurai¹, Masahiro Kodani¹, Masanari Watanabe¹, Akihiro Yamamoto¹, Eiji Nanba², Kaori Adachi², Tadashi Igishi¹, Eiji Shimizu¹

Affiliations

¹ Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.
² Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University , Yonago, Japan.

Abstract

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 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 SLC34A2 (c.1390 G>C [G464R] in exon 12).