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A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
Open accessAbstract
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).
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The Slc34a2 gene participates in the transportation of phosphate released from phospholipids during pulmonary surfactant recycling.
“This gene participates in the transportation of phosphate released from phospholipids during pulmonary surfactant recycling (Izumi et al., 2017), thus also plays an important role in the development of pulmonary surfactants.”
From Ancestral developmental potentials in early bony fish contributed to vertebrate water-to-land transition (2021) · cites this paper as Izumi et al., 2017
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References 16 · Cited by 27
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- Ozbudak IH, Bassorgun CI, Ozbilim G, Luleci G, Sarper A, Erdogan A et al. Pulmonary alveolar microlithiasis with homozygous c.316g>C (p.G106R) mutation: a case report. Turk Patoloji Derg 2012; 28: 282–285.
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Metadata
- Authors
- Izumi, H., Kurai, J., Kodani, M., Watanabe, M., Yamamoto, A., Nanba, E., Adachi, K., Igishi, T., & Shimizu, E.
- Affiliations
- Tottori University (JP)
- Corresponding author
- Izumi, Hiroki
- Venue
- Human Genome Variation
- Published
- 2017-01-26
- Volume
- 4
- Issue
- 1
- Pages
- 16047-16047
- ISSN
- 2054-345X (ISSN-L)
- PMC
- PMC5267164
- OpenAlex
- W2582733697
- Cited by
- 27
- References
- 16
- Citations by year
- 2026: 3 · 2025: 1 · 2024: 1 · 2023: 3 · 2022: 1 · 2021: 4 · 2020: 3 · 2019: 4 · 2018: 4 · 2017: 3
- FWCI
- 3.17
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Human Genome Variation (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- Japan Society for the Promotion of Science (26461159)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Medical Imaging and Pathology Studies
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Sarcoidosis and Beryllium Toxicity Research
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Keywords
- pulmonary alveolar microlithiasis, SLC34A2, novel mutations, autosomal recessive inheritance, microliths, genetic diagnosis
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