Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report

Next‐generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identify compound heterozygous mutations with a de novo one.

Detalles Bibliográficos
Autores principales: Huang, Sheng, Ma, Yinan, Zhang, Yu, Xiong, Hui, Chang, Xingzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283857/
https://www.ncbi.nlm.nih.gov/pubmed/34295493
http://dx.doi.org/10.1002/ccr3.4478
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author Huang, Sheng
Ma, Yinan
Zhang, Yu
Xiong, Hui
Chang, Xingzhi
author_facet Huang, Sheng
Ma, Yinan
Zhang, Yu
Xiong, Hui
Chang, Xingzhi
author_sort Huang, Sheng
collection PubMed
description Next‐generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identify compound heterozygous mutations with a de novo one.
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spelling pubmed-82838572021-07-21 Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report Huang, Sheng Ma, Yinan Zhang, Yu Xiong, Hui Chang, Xingzhi Clin Case Rep Case Reports Next‐generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identify compound heterozygous mutations with a de novo one. John Wiley and Sons Inc. 2021-07-16 /pmc/articles/PMC8283857/ /pubmed/34295493 http://dx.doi.org/10.1002/ccr3.4478 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Huang, Sheng
Ma, Yinan
Zhang, Yu
Xiong, Hui
Chang, Xingzhi
Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report
title Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report
title_full Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report
title_fullStr Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report
title_full_unstemmed Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report
title_short Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report
title_sort centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in ttn: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283857/
https://www.ncbi.nlm.nih.gov/pubmed/34295493
http://dx.doi.org/10.1002/ccr3.4478
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