Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.
Adult
Alternative Splicing
Alveolar Epithelial Cells
/ metabolism
Base Sequence
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Hyperplasia
/ genetics
Loss of Heterozygosity
Lung Diseases
/ genetics
Male
Middle Aged
Pedigree
Prognosis
Tuberous Sclerosis
/ genetics
Tuberous Sclerosis Complex 1 Protein
/ genetics
Journal
PloS one
ISSN: 1932-6203
Titre abrégé: PLoS One
Pays: United States
ID NLM: 101285081
Informations de publication
Date de publication:
2019
2019
Historique:
received:
13
11
2018
accepted:
18
01
2019
entrez:
23
2
2019
pubmed:
23
2
2019
medline:
19
11
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 30794603
doi: 10.1371/journal.pone.0212370
pii: PONE-D-18-32610
pmc: PMC6386448
doi:
Substances chimiques
TSC1 protein, human
0
Tuberous Sclerosis Complex 1 Protein
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e0212370Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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