A novel CUL7 mutation in a Japanese patient with 3M syndrome

3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter...

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Autores principales: Takatani, Tomozumi, Shiohama, Tadashi, Takatani, Rieko, Shimojo, Naoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199316/
https://www.ncbi.nlm.nih.gov/pubmed/30374406
http://dx.doi.org/10.1038/s41439-018-0029-3
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author Takatani, Tomozumi
Shiohama, Tadashi
Takatani, Rieko
Shimojo, Naoki
author_facet Takatani, Tomozumi
Shiohama, Tadashi
Takatani, Rieko
Shimojo, Naoki
author_sort Takatani, Tomozumi
collection PubMed
description 3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter of which is novel, who exhibited a good body height response to growth hormone treatment. These results expand our knowledge of phenotype–genotype correlations in 3M syndrome, including correlations relevant to growth hormone response.
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spelling pubmed-61993162018-10-29 A novel CUL7 mutation in a Japanese patient with 3M syndrome Takatani, Tomozumi Shiohama, Tadashi Takatani, Rieko Shimojo, Naoki Hum Genome Var Data Report 3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter of which is novel, who exhibited a good body height response to growth hormone treatment. These results expand our knowledge of phenotype–genotype correlations in 3M syndrome, including correlations relevant to growth hormone response. Nature Publishing Group UK 2018-10-23 /pmc/articles/PMC6199316/ /pubmed/30374406 http://dx.doi.org/10.1038/s41439-018-0029-3 Text en © The Author(s) 2018 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
Takatani, Tomozumi
Shiohama, Tadashi
Takatani, Rieko
Shimojo, Naoki
A novel CUL7 mutation in a Japanese patient with 3M syndrome
title A novel CUL7 mutation in a Japanese patient with 3M syndrome
title_full A novel CUL7 mutation in a Japanese patient with 3M syndrome
title_fullStr A novel CUL7 mutation in a Japanese patient with 3M syndrome
title_full_unstemmed A novel CUL7 mutation in a Japanese patient with 3M syndrome
title_short A novel CUL7 mutation in a Japanese patient with 3M syndrome
title_sort novel cul7 mutation in a japanese patient with 3m syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199316/
https://www.ncbi.nlm.nih.gov/pubmed/30374406
http://dx.doi.org/10.1038/s41439-018-0029-3
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