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Thorax 2009;64:365-367 doi:10.1136/thx.2008.102996
  • Case Report

A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study

  1. Y Ishihara1,
  2. K Hagiwara2,
  3. K Zen3,
  4. Huqun2,
  5. Y Hosokawa4,
  6. A Natsuhara1
  1. 1
    Department of Respiratory Medicine, Omihachiman Community Medical Center, Omihachiman, Japan
  2. 2
    Department of Respiratory Medicine, Saitama Medical University, Saitama, Japan
  3. 3
    Department of Cardiovascular Medicine, Omihachiman Community Medical Center, Omihachiman, Japan
  4. 4
    Department of Pathology, Omihachiman Community Medical Center, Omihachiman, Japan
  1. Dr K Hagiwara, Department of Respiratory Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Saitama 350-0495, Japan; hagiwark{at}saitama-med.ac.jp
  • Received 11 June 2008
  • Accepted 16 October 2008

Abstract

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.

Footnotes

  • Funding: This work was supported in part by grants-in-aid from Comprehensive Research on Aging and Health from the Ministry of Health, Labour and Welfare, Japan.

  • Competing interests: None.

  • Patient consent: Obtained.

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