A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study.
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.
Ishihara
Y
Y
Department of Respiratory Medicine, Omihachiman Community Medical Center, Omihachiman, Japan.
Hagiwara
K
K
Zen
K
K
Huqun
Hosokawa
Y
Y
Natsuhara
A
A