A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response...

Descripción completa

Detalles Bibliográficos
Autores principales: Lu, Yongping, Shimojima, Keiko, Sakuma, Tomoko, Nakaoka, Sachiko, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214593/
https://www.ncbi.nlm.nih.gov/pubmed/28101371
http://dx.doi.org/10.1038/hgv.2016.44
_version_ 1782491639592255488
author Lu, Yongping
Shimojima, Keiko
Sakuma, Tomoko
Nakaoka, Sachiko
Yamamoto, Toshiyuki
author_facet Lu, Yongping
Shimojima, Keiko
Sakuma, Tomoko
Nakaoka, Sachiko
Yamamoto, Toshiyuki
author_sort Lu, Yongping
collection PubMed
description Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response showed only the first wave and brain magnetic resonance imaging showed white matter hypomyelination, suggesting typical PMD. A novel PLP1 mutation, F240L, which was inherited from his mother, was identified.
format Online
Article
Text
id pubmed-5214593
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-52145932017-01-18 A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease Lu, Yongping Shimojima, Keiko Sakuma, Tomoko Nakaoka, Sachiko Yamamoto, Toshiyuki Hum Genome Var Data Report Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response showed only the first wave and brain magnetic resonance imaging showed white matter hypomyelination, suggesting typical PMD. A novel PLP1 mutation, F240L, which was inherited from his mother, was identified. Nature Publishing Group 2017-01-05 /pmc/articles/PMC5214593/ /pubmed/28101371 http://dx.doi.org/10.1038/hgv.2016.44 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 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-sa/4.0/
spellingShingle Data Report
Lu, Yongping
Shimojima, Keiko
Sakuma, Tomoko
Nakaoka, Sachiko
Yamamoto, Toshiyuki
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
title A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
title_full A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
title_fullStr A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
title_full_unstemmed A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
title_short A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
title_sort novel plp1 mutation f240l identified in a patient with connatal type pelizaeus-merzbacher disease
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214593/
https://www.ncbi.nlm.nih.gov/pubmed/28101371
http://dx.doi.org/10.1038/hgv.2016.44
work_keys_str_mv AT luyongping anovelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease
AT shimojimakeiko anovelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease
AT sakumatomoko anovelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease
AT nakaokasachiko anovelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease
AT yamamototoshiyuki anovelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease
AT luyongping novelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease
AT shimojimakeiko novelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease
AT sakumatomoko novelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease
AT nakaokasachiko novelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease
AT yamamototoshiyuki novelplp1mutationf240lidentifiedinapatientwithconnataltypepelizaeusmerzbacherdisease

Ejemplares similares