An inbred family with pulmonary alveolar microlithiasis in China: a genome-wide SNP study

作者：Zhang, Duchao; Xiao, Kun; Guan, Wei; Hu, Xiaohong; Yan, Peng; Xie, Lixin^*

来源：International Journal of Clinical and Experimental Pathology, 2017, 10(1): 446-452.

• Pedigree research
• pulmonary alveolar microlithiasis
• whole exon sequencing
• single nucleotide polymorphism

Pulmonary alveolar microlithiasis (PAM) is a rare genetic disease that is characterized by the accumulation of calcium phosphate deposits in the alveolar spaces of the lung. The clinical characteristics of the patients with PAM in Mainland China were analyzed, and a high-density single nucleotide polymorphism (SNP) was used to analysis genome-wide of the patients' genomic DNA. The two patients were sisters of an inbred family whose parents were cousins and presented typical manifestation of recurrent cough, progressive dyspnea. High resolution computed tomography (HRCT) demonstrated the pulmonary was full of high density reflection of intraalveolar microliths especially in double lower lobe, and calcification was found in the pericardial, aorta and pleural. We found homozygous mutation of the SLC34A2 gene, c.910A>T (p. K304X) in exon 8 in two patients, and heterozygous mutation in consanguineous marriage of parents and the other family members. We concluded that a patient with an inbred family history and typical radiological features of high density intra-alveolar microlith, PAM should be highly suspected. The homozygous mutation in SLC34A2 gene, leading to a premature stop codon and a truncated protein, was responsible for PAM in the inbred family.

• 出版日期2017
• 单位中国人民解放军总医院