A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay

We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperextensible finger joints as a case of Marfanoid-progeroid-lipody...

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Autores principales: Moriwaki, Takahito, Masuno, Mitsuo, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Takao, Kayo, Tawa, Kazumi, Yamanouchi, Yasuko, Miki, Atsushi, Otomo, Takanobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579217/
https://www.ncbi.nlm.nih.gov/pubmed/37845262
http://dx.doi.org/10.1038/s41439-023-00255-8
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author Moriwaki, Takahito
Masuno, Mitsuo
Nagata, Miho
Ishihara, Yasuki
Miyashita, Yohei
Asano, Yoshihiro
Takao, Kayo
Tawa, Kazumi
Yamanouchi, Yasuko
Miki, Atsushi
Otomo, Takanobu
author_facet Moriwaki, Takahito
Masuno, Mitsuo
Nagata, Miho
Ishihara, Yasuki
Miyashita, Yohei
Asano, Yoshihiro
Takao, Kayo
Tawa, Kazumi
Yamanouchi, Yasuko
Miki, Atsushi
Otomo, Takanobu
author_sort Moriwaki, Takahito
collection PubMed
description We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperextensible finger joints as a case of Marfanoid-progeroid-lipodystrophy syndrome. Genetic investigation revealed a heterozygous variant NC_000015.10(NM_000138.5):c.8226+5G>A in the FBN1 gene. Skipping of exon 65 and escaping nonsense-mediated decay followed by frameshift were experimentally confirmed in the proband’s mRNA.
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spelling pubmed-105792172023-10-18 A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay Moriwaki, Takahito Masuno, Mitsuo Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Takao, Kayo Tawa, Kazumi Yamanouchi, Yasuko Miki, Atsushi Otomo, Takanobu Hum Genome Var Data Report We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperextensible finger joints as a case of Marfanoid-progeroid-lipodystrophy syndrome. Genetic investigation revealed a heterozygous variant NC_000015.10(NM_000138.5):c.8226+5G>A in the FBN1 gene. Skipping of exon 65 and escaping nonsense-mediated decay followed by frameshift were experimentally confirmed in the proband’s mRNA. Nature Publishing Group UK 2023-10-16 /pmc/articles/PMC10579217/ /pubmed/37845262 http://dx.doi.org/10.1038/s41439-023-00255-8 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Moriwaki, Takahito
Masuno, Mitsuo
Nagata, Miho
Ishihara, Yasuki
Miyashita, Yohei
Asano, Yoshihiro
Takao, Kayo
Tawa, Kazumi
Yamanouchi, Yasuko
Miki, Atsushi
Otomo, Takanobu
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
title A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
title_full A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
title_fullStr A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
title_full_unstemmed A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
title_short A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
title_sort case of marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579217/
https://www.ncbi.nlm.nih.gov/pubmed/37845262
http://dx.doi.org/10.1038/s41439-023-00255-8
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