Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome

The LARP7 gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and novel compound heterozygous variants in LARP7 (i.e., c.370delG, p.Glu124fs*38...

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Autores principales: Dateki, Sumito, Kitajima, Tasuku, Kihara, Toshiharu, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874394/
https://www.ncbi.nlm.nih.gov/pubmed/29619239
http://dx.doi.org/10.1038/hgv.2018.14
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author Dateki, Sumito
Kitajima, Tasuku
Kihara, Toshiharu
Watanabe, Satoshi
Yoshiura, Koh-ichiro
Moriuchi, Hiroyuki
author_facet Dateki, Sumito
Kitajima, Tasuku
Kihara, Toshiharu
Watanabe, Satoshi
Yoshiura, Koh-ichiro
Moriuchi, Hiroyuki
author_sort Dateki, Sumito
collection PubMed
description The LARP7 gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and novel compound heterozygous variants in LARP7 (i.e., c.370delG, p.Glu124fs*38 and c.641_667+25del involving the splice donor site of intron 8). These findings provide further evidence that biallelic LARP7 defects cause the phenotype of Alazami syndrome.
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spelling pubmed-58743942018-04-04 Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome Dateki, Sumito Kitajima, Tasuku Kihara, Toshiharu Watanabe, Satoshi Yoshiura, Koh-ichiro Moriuchi, Hiroyuki Hum Genome Var Data Report The LARP7 gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and novel compound heterozygous variants in LARP7 (i.e., c.370delG, p.Glu124fs*38 and c.641_667+25del involving the splice donor site of intron 8). These findings provide further evidence that biallelic LARP7 defects cause the phenotype of Alazami syndrome. Nature Publishing Group 2018-03-29 /pmc/articles/PMC5874394/ /pubmed/29619239 http://dx.doi.org/10.1038/hgv.2018.14 Text en Copyright © 2018 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Dateki, Sumito
Kitajima, Tasuku
Kihara, Toshiharu
Watanabe, Satoshi
Yoshiura, Koh-ichiro
Moriuchi, Hiroyuki
Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
title Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
title_full Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
title_fullStr Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
title_full_unstemmed Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
title_short Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
title_sort novel compound heterozygous variants in the larp7 gene in a patient with alazami syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874394/
https://www.ncbi.nlm.nih.gov/pubmed/29619239
http://dx.doi.org/10.1038/hgv.2018.14
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