Novel LAMA2 variants identified in a patient with white matter abnormalities

Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2)...

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Autores principales: Yamamoto-Shimojima, Keiko, Ono, Hiroaki, Imaizumi, Taichi, Yamamoto, Toshiyuki
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/PMC7248065/
https://www.ncbi.nlm.nih.gov/pubmed/32509318
http://dx.doi.org/10.1038/s41439-020-0103-5
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author Yamamoto-Shimojima, Keiko
Ono, Hiroaki
Imaizumi, Taichi
Yamamoto, Toshiyuki
author_facet Yamamoto-Shimojima, Keiko
Ono, Hiroaki
Imaizumi, Taichi
Yamamoto, Toshiyuki
author_sort Yamamoto-Shimojima, Keiko
collection PubMed
description Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 2dup, which consist of compound heterozygous involvement with predicted loss-of-function and splicing abnormalities.
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spelling pubmed-72480652020-06-04 Novel LAMA2 variants identified in a patient with white matter abnormalities Yamamoto-Shimojima, Keiko Ono, Hiroaki Imaizumi, Taichi Yamamoto, Toshiyuki Hum Genome Var Data Report Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 2dup, which consist of compound heterozygous involvement with predicted loss-of-function and splicing abnormalities. Nature Publishing Group UK 2020-05-26 /pmc/articles/PMC7248065/ /pubmed/32509318 http://dx.doi.org/10.1038/s41439-020-0103-5 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
Yamamoto-Shimojima, Keiko
Ono, Hiroaki
Imaizumi, Taichi
Yamamoto, Toshiyuki
Novel LAMA2 variants identified in a patient with white matter abnormalities
title Novel LAMA2 variants identified in a patient with white matter abnormalities
title_full Novel LAMA2 variants identified in a patient with white matter abnormalities
title_fullStr Novel LAMA2 variants identified in a patient with white matter abnormalities
title_full_unstemmed Novel LAMA2 variants identified in a patient with white matter abnormalities
title_short Novel LAMA2 variants identified in a patient with white matter abnormalities
title_sort novel lama2 variants identified in a patient with white matter abnormalities
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248065/
https://www.ncbi.nlm.nih.gov/pubmed/32509318
http://dx.doi.org/10.1038/s41439-020-0103-5
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