TY - JOUR
T1 - Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1
T2 - Three cases in one family
AU - Shoji, Tetsuaki
AU - Konno, Satoshi
AU - Niida, Yo
AU - Ogi, Takahiro
AU - Suzuki, Masaru
AU - Shimizu, Kaoruko
AU - Hida, Yasuhiro
AU - Kaga, Kichizo
AU - Seyama, Kuniaki
AU - Naka, Tomoaki
AU - Matsuno, Yoshihiro
AU - Nishimura, Masaharu
N1 - Publisher Copyright:
© 2019 Shoji et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
PY - 2019/2
Y1 - 2019/2
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85061992574&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85061992574&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0212370
DO - 10.1371/journal.pone.0212370
M3 - Article
C2 - 30794603
AN - SCOPUS:85061992574
SN - 1932-6203
VL - 14
JO - PloS one
JF - PloS one
IS - 2
M1 - e0212370
ER -