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...

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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
Descripción
Sumario: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.

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