Gene sequencing study of one patient with pulmonary alveolar microlithiasis and review of literature

Objective To find the gene mutation sequence related to pulmonary alveolar microlithiasis (PAM) by the diagnosis of one patient with PAM and the sequencing analysis of SLC34A2 gene, and to review the relevant literatures. Methods A male patient from a consanguineous family was suspectedly diagnosed as PAM by clinical and imaging examinations, and was pathologically confirmed by transbronchial lung biopsy. Peripheral blood was taken for genetic testing, and gene SLC34A2 exons were amplified, sequenced, and analyzed. Results Exon 2～13 of SLC34A2 was successfully amplified. DNA sequencing showed that two homozygous SNP were found, one was C/T in intron 2 named rs4697597, and the other was A/T in exon 8 (c. A910T). rs4697597 function analysis showed that there was no relationship with transcription and translation of SLC34A2. Exon 8 mutation made codon AAA transcribing lysine change into stop codon TAA, which might result in disfunction of SLC34A2. Conclusions This patient is a descendant of consanguineous marriage, and the mutation in exon 8 of SLC34A2 maybe the reason of the PAM occurance. Key words: Pulmonary alveolar microlithiasis ;  SLC34A2;  Gene mutation