Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708d...

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Autores principales: Takizaki, Nao, Tsurusaki, Yoshinori, Katsumata, Kaoru, Enomoto, Yumi, Murakami, Hiroaki, Muroya, Koji, Ishikawa, Hiroshi, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000808/
https://www.ncbi.nlm.nih.gov/pubmed/32047638
http://dx.doi.org/10.1038/s41439-020-0090-6
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author Takizaki, Nao
Tsurusaki, Yoshinori
Katsumata, Kaoru
Enomoto, Yumi
Murakami, Hiroaki
Muroya, Koji
Ishikawa, Hiroshi
Aida, Noriko
Nishimura, Gen
Kurosawa, Kenji
author_facet Takizaki, Nao
Tsurusaki, Yoshinori
Katsumata, Kaoru
Enomoto, Yumi
Murakami, Hiroaki
Muroya, Koji
Ishikawa, Hiroshi
Aida, Noriko
Nishimura, Gen
Kurosawa, Kenji
author_sort Takizaki, Nao
collection PubMed
description 3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708del and c.1989_1999del of CUL7. Skeletal features were consistent with 3M syndrome in the early neonatal period but became less obvious by 2 years of age.
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spelling pubmed-70008082020-02-11 Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome Takizaki, Nao Tsurusaki, Yoshinori Katsumata, Kaoru Enomoto, Yumi Murakami, Hiroaki Muroya, Koji Ishikawa, Hiroshi Aida, Noriko Nishimura, Gen Kurosawa, Kenji Hum Genome Var Data Report 3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708del and c.1989_1999del of CUL7. Skeletal features were consistent with 3M syndrome in the early neonatal period but became less obvious by 2 years of age. Nature Publishing Group UK 2020-02-04 /pmc/articles/PMC7000808/ /pubmed/32047638 http://dx.doi.org/10.1038/s41439-020-0090-6 Text en © The Author(s) 2020 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/.
spellingShingle Data Report
Takizaki, Nao
Tsurusaki, Yoshinori
Katsumata, Kaoru
Enomoto, Yumi
Murakami, Hiroaki
Muroya, Koji
Ishikawa, Hiroshi
Aida, Noriko
Nishimura, Gen
Kurosawa, Kenji
Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
title Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
title_full Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
title_fullStr Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
title_full_unstemmed Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
title_short Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
title_sort novel cul7 biallelic mutations alter the skeletal phenotype of 3m syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000808/
https://www.ncbi.nlm.nih.gov/pubmed/32047638
http://dx.doi.org/10.1038/s41439-020-0090-6
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