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A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation
The term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodys...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512909/ https://www.ncbi.nlm.nih.gov/pubmed/37448194 http://dx.doi.org/10.1111/jdi.14055 |
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author | Huang, Shipeng Zhang, Yan Zhan, Zuan Gong, Shuhao |
author_facet | Huang, Shipeng Zhang, Yan Zhan, Zuan Gong, Shuhao |
author_sort | Huang, Shipeng |
collection | PubMed |
description | The term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodystrophy‐associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene c.29C>T(p.T10I). This paper reports the first case of GLPS in China and compares the clinical features of other GLPS patients with literature reports. A 16‐year‐old male patient was treated for diabetic ketoacidosis, presenting with premature aging appearance, systemic lipodystrophy, severe fatty liver, and decreased bone density. After peripheral blood DNA extraction and second‐generation sequencing, a heterozygous mutation of exon 1 of the LMNA gene c.29C>T(p.T10I) was detected. This case of GLPS may provide a diagnostic and therapeutic basis for potential patients. |
format | Online Article Text |
id | pubmed-10512909 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-105129092023-09-22 A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation Huang, Shipeng Zhang, Yan Zhan, Zuan Gong, Shuhao J Diabetes Investig Articles The term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodystrophy‐associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene c.29C>T(p.T10I). This paper reports the first case of GLPS in China and compares the clinical features of other GLPS patients with literature reports. A 16‐year‐old male patient was treated for diabetic ketoacidosis, presenting with premature aging appearance, systemic lipodystrophy, severe fatty liver, and decreased bone density. After peripheral blood DNA extraction and second‐generation sequencing, a heterozygous mutation of exon 1 of the LMNA gene c.29C>T(p.T10I) was detected. This case of GLPS may provide a diagnostic and therapeutic basis for potential patients. John Wiley and Sons Inc. 2023-07-13 /pmc/articles/PMC10512909/ /pubmed/37448194 http://dx.doi.org/10.1111/jdi.14055 Text en © 2023 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Articles Huang, Shipeng Zhang, Yan Zhan, Zuan Gong, Shuhao A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation |
title | A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation |
title_full | A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation |
title_fullStr | A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation |
title_full_unstemmed | A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation |
title_short | A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation |
title_sort | subtype of laminopathies: generalized lipodystrophy‐associated progeroid syndrome caused by lmna gene c.29c>t mutation |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512909/ https://www.ncbi.nlm.nih.gov/pubmed/37448194 http://dx.doi.org/10.1111/jdi.14055 |
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