A novel PHEX mutation associated with vitamin D-resistant rickets

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. Here, we present a case of XLH associated with a novel mutation in a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). PCR-direct sequencing revealed a novel PHEX mutation in...

Descripción completa

Detalles Bibliográficos
Autores principales: Sako, Saori, Niida, Yo, Shima, Kosuke Robert, Takeshita, Yumie, Ishii, Kiyo-aki, Takamura, Toshinari
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/PMC6374454/
https://www.ncbi.nlm.nih.gov/pubmed/30792871
http://dx.doi.org/10.1038/s41439-019-0040-3
_version_ 1783395154576539648
author Sako, Saori
Niida, Yo
Shima, Kosuke Robert
Takeshita, Yumie
Ishii, Kiyo-aki
Takamura, Toshinari
author_facet Sako, Saori
Niida, Yo
Shima, Kosuke Robert
Takeshita, Yumie
Ishii, Kiyo-aki
Takamura, Toshinari
author_sort Sako, Saori
collection PubMed
description X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. Here, we present a case of XLH associated with a novel mutation in a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). PCR-direct sequencing revealed a novel PHEX mutation in exon 22, NM_000444.6(PHEX):c.2202del [p.Asn736Ilefs*4], near the 3′-UTR region encoding the COOH-terminal extracellular domain. In silico analysis indicated that a single mutation in N736 may have caused a significant change in higher-order protein structure and function.
format Online
Article
Text
id pubmed-6374454
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-63744542019-02-21 A novel PHEX mutation associated with vitamin D-resistant rickets Sako, Saori Niida, Yo Shima, Kosuke Robert Takeshita, Yumie Ishii, Kiyo-aki Takamura, Toshinari Hum Genome Var Data Report X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. Here, we present a case of XLH associated with a novel mutation in a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). PCR-direct sequencing revealed a novel PHEX mutation in exon 22, NM_000444.6(PHEX):c.2202del [p.Asn736Ilefs*4], near the 3′-UTR region encoding the COOH-terminal extracellular domain. In silico analysis indicated that a single mutation in N736 may have caused a significant change in higher-order protein structure and function. Nature Publishing Group UK 2019-02-14 /pmc/articles/PMC6374454/ /pubmed/30792871 http://dx.doi.org/10.1038/s41439-019-0040-3 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
Sako, Saori
Niida, Yo
Shima, Kosuke Robert
Takeshita, Yumie
Ishii, Kiyo-aki
Takamura, Toshinari
A novel PHEX mutation associated with vitamin D-resistant rickets
title A novel PHEX mutation associated with vitamin D-resistant rickets
title_full A novel PHEX mutation associated with vitamin D-resistant rickets
title_fullStr A novel PHEX mutation associated with vitamin D-resistant rickets
title_full_unstemmed A novel PHEX mutation associated with vitamin D-resistant rickets
title_short A novel PHEX mutation associated with vitamin D-resistant rickets
title_sort novel phex mutation associated with vitamin d-resistant rickets
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374454/
https://www.ncbi.nlm.nih.gov/pubmed/30792871
http://dx.doi.org/10.1038/s41439-019-0040-3
work_keys_str_mv AT sakosaori anovelphexmutationassociatedwithvitamindresistantrickets
AT niidayo anovelphexmutationassociatedwithvitamindresistantrickets
AT shimakosukerobert anovelphexmutationassociatedwithvitamindresistantrickets
AT takeshitayumie anovelphexmutationassociatedwithvitamindresistantrickets
AT ishiikiyoaki anovelphexmutationassociatedwithvitamindresistantrickets
AT takamuratoshinari anovelphexmutationassociatedwithvitamindresistantrickets
AT sakosaori novelphexmutationassociatedwithvitamindresistantrickets
AT niidayo novelphexmutationassociatedwithvitamindresistantrickets
AT shimakosukerobert novelphexmutationassociatedwithvitamindresistantrickets
AT takeshitayumie novelphexmutationassociatedwithvitamindresistantrickets
AT ishiikiyoaki novelphexmutationassociatedwithvitamindresistantrickets
AT takamuratoshinari novelphexmutationassociatedwithvitamindresistantrickets

Ejemplares similares