Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy

A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1 G > G/T and c.6310-2 A > A/T), whereas normal mRNA was produced. Genomic DNA analysis...

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Autores principales: Shimomura, Hideki, Lee, Tomoko, Tanaka, Yasuhiko, Awano, Hiroyuki, Itoh, Kyoko, Nishino, Ichizo, Takeshima, Yasuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486579/
https://www.ncbi.nlm.nih.gov/pubmed/31044083
http://dx.doi.org/10.1038/s41439-019-0052-z
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author Shimomura, Hideki
Lee, Tomoko
Tanaka, Yasuhiko
Awano, Hiroyuki
Itoh, Kyoko
Nishino, Ichizo
Takeshima, Yasuhiro
author_facet Shimomura, Hideki
Lee, Tomoko
Tanaka, Yasuhiko
Awano, Hiroyuki
Itoh, Kyoko
Nishino, Ichizo
Takeshima, Yasuhiro
author_sort Shimomura, Hideki
collection PubMed
description A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1 G > G/T and c.6310-2 A > A/T), whereas normal mRNA was produced. Genomic DNA analysis revealed two mutations located on the same allele; however, no mutation was detected in either parent. These results indicated that two closely spaced de novo mutations resulted in the autosomal dominant UCMD.
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spelling pubmed-64865792019-05-01 Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy Shimomura, Hideki Lee, Tomoko Tanaka, Yasuhiko Awano, Hiroyuki Itoh, Kyoko Nishino, Ichizo Takeshima, Yasuhiro Hum Genome Var Data Report A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1 G > G/T and c.6310-2 A > A/T), whereas normal mRNA was produced. Genomic DNA analysis revealed two mutations located on the same allele; however, no mutation was detected in either parent. These results indicated that two closely spaced de novo mutations resulted in the autosomal dominant UCMD. Nature Publishing Group UK 2019-04-26 /pmc/articles/PMC6486579/ /pubmed/31044083 http://dx.doi.org/10.1038/s41439-019-0052-z Text en © The Author(s) 2019 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
Shimomura, Hideki
Lee, Tomoko
Tanaka, Yasuhiko
Awano, Hiroyuki
Itoh, Kyoko
Nishino, Ichizo
Takeshima, Yasuhiro
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
title Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
title_full Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
title_fullStr Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
title_full_unstemmed Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
title_short Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
title_sort two closely spaced mutations in cis result in ullrich congenital muscular dystrophy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486579/
https://www.ncbi.nlm.nih.gov/pubmed/31044083
http://dx.doi.org/10.1038/s41439-019-0052-z
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