A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

Heterozygous mutations in the ACAN gene have been reported in individuals with short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans. We report a family with a phenotypic constellation carrying a novel mutation in the ACAN gene. The proband...

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Autores principales: Uchida, Noboru, Shibata, Hironori, Nishimura, Gen, Hasegawa, Tomonobu
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/PMC7712780/
https://www.ncbi.nlm.nih.gov/pubmed/33298914
http://dx.doi.org/10.1038/s41439-020-00132-8
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author Uchida, Noboru
Shibata, Hironori
Nishimura, Gen
Hasegawa, Tomonobu
author_facet Uchida, Noboru
Shibata, Hironori
Nishimura, Gen
Hasegawa, Tomonobu
author_sort Uchida, Noboru
collection PubMed
description Heterozygous mutations in the ACAN gene have been reported in individuals with short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans. We report a family with a phenotypic constellation carrying a novel mutation in the ACAN gene. The proband was a 7-year-old Japanese girl with short stature. Her mother and maternal grandmother also had short stature and intervertebral disc disease. We analyzed the ACAN gene in the family and identified a novel heterozygous mutation: c.4634delT, Leu1545Profs*11.
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spelling pubmed-77127802020-12-07 A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease Uchida, Noboru Shibata, Hironori Nishimura, Gen Hasegawa, Tomonobu Hum Genome Var Data Report Heterozygous mutations in the ACAN gene have been reported in individuals with short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans. We report a family with a phenotypic constellation carrying a novel mutation in the ACAN gene. The proband was a 7-year-old Japanese girl with short stature. Her mother and maternal grandmother also had short stature and intervertebral disc disease. We analyzed the ACAN gene in the family and identified a novel heterozygous mutation: c.4634delT, Leu1545Profs*11. Nature Publishing Group UK 2020-12-03 /pmc/articles/PMC7712780/ /pubmed/33298914 http://dx.doi.org/10.1038/s41439-020-00132-8 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
Uchida, Noboru
Shibata, Hironori
Nishimura, Gen
Hasegawa, Tomonobu
A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease
title A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease
title_full A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease
title_fullStr A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease
title_full_unstemmed A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease
title_short A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease
title_sort novel mutation in the acan gene in a family with autosomal dominant short stature and intervertebral disc disease
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712780/
https://www.ncbi.nlm.nih.gov/pubmed/33298914
http://dx.doi.org/10.1038/s41439-020-00132-8
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