ArticlePloS one2019
Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.Scientific reports · 2025Article
- Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.HGG advances · 2022Article
- Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.International journal of molecular sciences · 2022Article
- Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report.Croatian medical journal · 2021Article
- Novel genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH): a case report with frequent BRAF mutations analyzed by next-generation sequencing supporting benign behaviors of MMPH.Virchows Archiv : an international journal of pathology · 2021Article
- Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex.Respiratory medicine case reports · 2021Article
- [Is It Possible to Diagnose Lymphangioleiomyomatosis or Multifocal Micronodular Pneumocyte Hyperplasia Without Visible Lesions on the Chest Tomography?]Open respiratory archivesArticle
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary disease, generally manifesting as a tuberous sclerosis complex (TSC), characterised by multiple, small ground-glass nodular shadows on chest computed tomography (CT). Histological examination typically reveals multicentric, well-demarcated, nodular type II pneumocystic growth. Herein, we describe three cases of this rare pulmonary disease occurring within one family. Using reverse transcription polymerase chain reaction (RT-PCR) and direct DNA sequencing, we identified a novel germline mutation, a point mutation in TSC1 intron 5, which yielded a splice variant and loss of function of TSC1. Furthermore, immunohistochemical staining indicated the expression of phospho-p70S6K and phospho-4E-BP1, suggesting that TSC1 function was impaired by the novel gene mutation in MMPH cells.
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