ArticleRespirology case reports2022
Compound heterozygous mutation of RTEL1 in interstitial lung disease complicated with pneumothorax and emphysema: A case report and literature review.
Article in Respirology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 3 citations in OpenAlex.
- Compound heterozygous mutation of RTEL1 in interstitial lung disease complicated with pneumothorax and emphysema: A case report and literature review.Respirology case reports · 2022Article
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Authors and funding
2 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Interstitial lung diseases (ILDs) are common respiratory diseases with limited treatment options and poor prognoses. Early and accurate diagnosis of ILD is challenging and requires a multidisciplinary discussion. We report a 32-year-old patient admitted to our hospital with cough and increasing dyspnea on exertion. Computerized tomography scan of his chest demonstrated diffuse interstitial abnormalities, emphysematous changes, and a pneumothorax. Whole-exome sequencing (WES) and Sanger sequencing indicated a compound mutation of heterozygosity in RTEL1 gene c.2992C > T(p.Arg998*) and c.482T > C(p.Val161Ala). In-silicon analysis revealed the pathogenic nonsense mutation c.2992C > T, which introduced a premature stop codon in exon 30 of RTEL1. The patient is still alive with progressive dyspnea to now. We reviewed the pathophysiology of ILD patients carrying RTEL1 mutations and the roles of RTEL1 mutation in guiding treatment and prognostication in ILD.
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