CASE REPORT
A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study
1 Department of Respiratory Medicine, Omihachiman Community Medical Center, Omihachiman, Japan
2 Department of Respiratory Medicine, Saitama Medical University, Saitama, Japan
3 Department of Cardiovascular Medicine, Omihachiman Community Medical Center, Omihachiman, Japan
4 Department of Pathology, Omihachiman Community Medical Center, Omihachiman, Japan
Correspondence to:
Dr K Hagiwara, Department of Respiratory Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Saitama 350-0495, Japan; hagiwark{at}saitama-med.ac.jp
A case of pulmonary alveolar microlithiasis occurring in an inbred family is presented. A genome-wide analysis of the patient’s genomic DNA using a high-density single nucleotide polymorphism (SNP) array revealed a small intragenetic mutation at SLC34A2. The results suggest that the high-density SNP array has the power to identify a recessive disease gene(s) even in the analysis of only a single inbred patient.
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