Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report

We report on a 34-year-old woman diagnosed with tuberous sclerosis complex. The patient was admitted for respiratory manifestations, while multi-organ involvement made the diagnostic process challenging. Genetic testing revealed a novel mutation TSC1 c.2094_2110del (p.His699Ter), which expands the d...

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Detalles Bibliográficos
Autores principales: Li, Ai, Jiang, Rong, Li, Yongxia, Teng, Xixian, Ding, Kaijun, Yang, Bingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8596470/
https://www.ncbi.nlm.nih.gov/pubmed/34730894
http://dx.doi.org/10.3325/cmj.2021.62.523
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author Li, Ai
Jiang, Rong
Li, Yongxia
Teng, Xixian
Ding, Kaijun
Yang, Bingqian
author_facet Li, Ai
Jiang, Rong
Li, Yongxia
Teng, Xixian
Ding, Kaijun
Yang, Bingqian
author_sort Li, Ai
collection PubMed
description We report on a 34-year-old woman diagnosed with tuberous sclerosis complex. The patient was admitted for respiratory manifestations, while multi-organ involvement made the diagnostic process challenging. Genetic testing revealed a novel mutation TSC1 c.2094_2110del (p.His699Ter), which expands the disease-causing variant spectrum. Our results may facilitate the disease diagnostics and help to devise genetic counseling and targeted gene therapy.
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spelling pubmed-85964702021-11-29 Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report Li, Ai Jiang, Rong Li, Yongxia Teng, Xixian Ding, Kaijun Yang, Bingqian Croat Med J Case Report We report on a 34-year-old woman diagnosed with tuberous sclerosis complex. The patient was admitted for respiratory manifestations, while multi-organ involvement made the diagnostic process challenging. Genetic testing revealed a novel mutation TSC1 c.2094_2110del (p.His699Ter), which expands the disease-causing variant spectrum. Our results may facilitate the disease diagnostics and help to devise genetic counseling and targeted gene therapy. Croatian Medical Schools 2021-10 /pmc/articles/PMC8596470/ /pubmed/34730894 http://dx.doi.org/10.3325/cmj.2021.62.523 Text en Copyright © 2021 by the Croatian Medical Journal. All rights reserved. https://creativecommons.org/licenses/by/2.5/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Li, Ai
Jiang, Rong
Li, Yongxia
Teng, Xixian
Ding, Kaijun
Yang, Bingqian
Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report
title Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report
title_full Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report
title_fullStr Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report
title_full_unstemmed Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report
title_short Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report
title_sort multifocal micronodular pneumocyte hyperplasia with a novel mutation in tsc1: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8596470/
https://www.ncbi.nlm.nih.gov/pubmed/34730894
http://dx.doi.org/10.3325/cmj.2021.62.523
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