Genetic and Developmental Disorders: Genetic Disorders |

Genome-Wide SNP Study and Clinical Analysis of a Chinese Inbred Family With Pulmonary Alveolar Microlithiasis FREE TO VIEW

Duchao Zhang; Xiaohong Hu; Peng Yan; Wei Guan; Hongjun Gu; Lixin Xie, PhD
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Chinese PLA General Hospital, Beijing, China

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;149(4_S):A249. doi:10.1016/j.chest.2016.02.259
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SESSION TITLE: Genetic Disorders

SESSION TYPE: Original Investigation Poster

PRESENTED ON: Saturday, April 16, 2016 at 11:45 AM - 12:45 PM

PURPOSE: To describe the characteristics and intragenetic mutation of a Chinese inbred family with pulmonary alveolar microlithiasis (PAM), and therefore to identify mutations that caused the PAM of the patients as well as the carriers of their family.

METHODS: We analyze the clinical, laboratory and radiological data of the patients with pulmonary alveolar microlithiasis in a family and a high-density single nucleotide polymorphism (SNP) was used to analysis genome-wide of the patients' genomic DNA.

RESULTS: 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. Pulmonary function showed impairment of small airway and dispersion function. Pathology of lung biopsy showed irregular microlith with lamination and massive calcification by hematoxylin-eosin (HE) stain. We found heterozygous mutation of the SLC34A2 gene, c.910A > T (p.K304X) in exon 8 in the consanguineous marriage of parents and homozygous mutation in two patients.

CONCLUSIONS: For a patient with an inbred family history and typical radiological features of high density intraalveolar microliths, the diagnosis should be highly suspected. Pathology of lung biopsy with irregular microlith is the gold standard and the homozygous mutation in SLC34A2 gene, leading to a premature stop codon and a truncated protein, was responsible for PAM in this inbred family.

CLINICAL IMPLICATIONS: High-density SNP array has the power to identify a recessive disease gene(s) in the analysis of a single inbred patient, homozygous mutation of SLC34A2 gene was responsible for PAM in this Chinese inbred family.

DISCLOSURE: The following authors have nothing to disclose: Duchao Zhang, Xiaohong Hu, Peng Yan, Wei Guan, Hongjun Gu, Lixin Xie

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