Related Experiment Video

Updated: Mar 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K

A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis

Hiroki Izumi1, Jun Kurai1, Masahiro Kodani1

  • 1Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.

Human Genome Variation
|February 2, 2017
PubMed

Insights

Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease. Researchers identified a novel mutation in the SLC34A2 gene in a Japanese female patient, advancing understanding of this condition.

Area of Science:

  • Genetics
  • Pulmonology
  • Rare Diseases

Background:

  • Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive condition.
  • It is characterized by the accumulation of microliths within the lung alveoli.
  • Mutations in the SLC34A2 gene are known to cause PAM.

Purpose of the Study:

  • To diagnose and characterize a case of Pulmonary alveolar microlithiasis.
  • To identify the genetic mutation responsible for PAM in the patient.
  • To contribute to the understanding of SLC34A2 gene mutations in rare lung diseases.

Main Methods:

  • Clinical diagnosis of Pulmonary alveolar microlithiasis.
  • Genetic analysis to identify mutations in the SLC34A2 gene.
  • Exon sequencing to pinpoint the specific mutation.

Main Results:

  • A case of PAM was diagnosed in a 27-year-old Japanese female.
  • A novel mutation, c.1390 G>C (G464R) in exon 12 of the SLC34A2 gene, was identified.
  • This finding expands the spectrum of known SLC34A2 mutations associated with PAM.

Conclusions:

  • The study successfully diagnosed a rare case of Pulmonary alveolar microlithiasis.
  • A novel mutation in SLC34A2 was identified, furthering the genetic understanding of PAM.
  • This case highlights the importance of genetic analysis in diagnosing rare pulmonary diseases.

More Related Videos

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma10:21

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma

Published on: September 20, 2024

941
Utilizing 18F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer06:51

Utilizing 18F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer

Published on: July 21, 2018

18.8K

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
973
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
85
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
25.5K
Mutations01:39

Mutations

Overview
95.3K
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
61.0K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.7K