Related Experiment Video
Updated: Jun 27, 2026
Establishing a Silicosis Rat Model via Exposure of Whole-Body to Respirable Silica
Published on: October 28, 2022
Differences in genetic characteristics between Chinese and non-Chinese patients with pulmonary alveolar
Mengyao Guo1, Lijuan Hua1, Wenxue Bai1
1Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Background:
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder caused by SLC34A2 variants, characterized by diffuse alveolar calcium phosphate deposits. While the SLC34A2 mutation spectrum has been well-documented, the distinct variant landscape in Chinese patients remains unclear.
Objectives:
This study aims to report three newly identified PAM cases and describe the SLC34A2 mutation spectrum of Chinese PAM patients through a systematic review.
Design:
We documented the diagnosis and treatment processes and genetic variations of three PAM cases for reporting. Furthermore, we searched academic websites for published PAM cases with SLC34A2 variants and extracted clinical and genetic data for analysis.
Methods:
We employed whole-exome sequencing to identify genetic mutations of these three patients. We systematically searched PubMed, Web of Science, China National Knowledge Infrastructure, and Cochrane Library for published PAM cases with SLC34A2 mutations. Clinical and genetic data were extracted into an Excel database and analyzed using SPSS 23.0 software (IBM, Armonk, NY, USA).
Results:
Among the three cases we reported, two homozygous mutations in SLC34A2-c.910A>T (p.Lys304*) in exon 8 and c.575C>A (p.Thr192Lys) in exon 6 were identified. Analysis of 27 Chinese and 49 non-Chinese PAM patients revealed similar clinical manifestations, but a strikingly distinct genetic spectrum. Compound heterozygous mutations predominated in Chinese patients, while only two cases of compound heterozygous mutations were found in non-Chinese patients. Deletion/insertion mutations are the most common in non-Chinese patients (19/47, 40.4%), whereas nonsense mutations are the most frequent in Chinese patients (12/20, 60%). Further analysis of the reported SLC34A2 mutation sites in Chinese PAM patients showed hotspot regions in exons 5, 6, and 8, with c.910A>T in exon 8 being a unique gene screening target in Chinese patients.
Conclusion:
This study delineates a distinct spectrum of SLC34A2 mutations in Chinese PAM patients, highlighting the importance of ethnicity-specific genetic screening in PAM diagnosis.
Insights
Pulmonary alveolar microlithiasis (PAM) shows distinct genetic differences in Chinese patients. This study identifies specific SLC34A2 mutations, emphasizing ethnicity-specific screening for accurate diagnosis.
Area of Science:
- Genetics
- Rare Diseases
- Pulmonary Medicine
Background:
- Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder.
- It is characterized by diffuse alveolar calcium phosphate deposits due to SLC34A2 variants.
- The distinct variant landscape in Chinese patients remains unclear.
Purpose of the Study:
- To report three newly identified PAM cases.
- To describe the SLC34A2 mutation spectrum of Chinese PAM patients through a systematic review.
Main Methods:
- Whole-exome sequencing was used to identify mutations in three new cases.
- A systematic literature review was conducted on PubMed, Web of Science, CNKI, and Cochrane Library.
- Clinical and genetic data from 27 Chinese and 49 non-Chinese PAM patients were analyzed.
Main Results:
- Two homozygous SLC34A2 mutations (c.910A>T and c.575C>A) were identified in the reported cases.
- Chinese PAM patients predominantly exhibit compound heterozygous mutations, unlike non-Chinese patients.
- Nonsense mutations are most frequent in Chinese patients (60%), with hotspot regions in exons 5, 6, and 8.
Conclusions:
- A distinct spectrum of SLC34A2 mutations in Chinese PAM patients was delineated.
- Ethnicity-specific genetic screening is crucial for accurate PAM diagnosis.
- The c.910A>T mutation in exon 8 is a unique screening target for Chinese patients.
More Related Videos
10:21Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma
Published on: September 20, 2024
03:38Unilateral Lung Volume Analysis Using Micro-CT for Enhanced Assessment of Pulmonary Fibrosis in Preclinical Models
Published on: June 20, 2025
Related Concept Videos
01:23Cystic Fibrosis: Pathogenesis
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, but...
01:14Atypical Pneumonia