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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis

Åsa Lina M Jönsson1, Elisabeth Bendstrup2, Susie Mogensen3

  • 1Dept of Biomedicine, Aarhus University, Aarhus, Denmark aasajoen@rm.dk.

The European Respiratory Journal
|December 14, 2019
PubMed
Abstract

Insights

Genetic variants in the SLC34A2 gene cause Pulmonary Alveolar Microlithiasis (PAM). This study identified eight novel SLC34A2 variants and found a correlation between disease severity and variant severity in PAM patients.

Area of Science:

  • Genetics
  • Pulmonology
  • Molecular Biology

Background:

  • Pulmonary Alveolar Microlithiasis (PAM) is a rare genetic disorder.
  • It is caused by variants in the SLC34A2 gene, encoding the NaPi-2b phosphate transporter.
  • The full spectrum of SLC34A2 variants and their link to disease severity were previously unknown.

Purpose of the Study:

  • To investigate the variant spectrum of the SLC34A2 gene in PAM patients.
  • To explore the genotype-phenotype correlation in Pulmonary Alveolar Microlithiasis.
  • To identify novel genetic variants associated with PAM.

Main Methods:

  • DNA sequencing of the SLC34A2 gene in 14 PAM patients and four relatives.
  • Analysis of coding regions for genetic variants.
  • Clinical data collection and creation of a variant severity score.

Main Results:

  • Eight novel allelic variants of SLC34A2 were identified in 14 PAM patients.
  • Four nonsense, three missense, and one splice site variant were discovered.
  • A correlation between disease severity and the severity of SLC34A2 variants was observed.

Conclusions:

  • The study confirms the significant role of SLC34A2 in Pulmonary Alveolar Microlithiasis.
  • The identified variants expand the known spectrum of SLC34A2 mutations in PAM.
  • A genotype-phenotype correlation suggests variant severity influences disease manifestation, warranting further investigation.

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