Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease

Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism caused by a mutation in the GLA gene. We sequenced the α-galactosidase A gene (GLA) of a patient who had been clinically diagnosed with late-onset Fabry disease. Abundant globotriaosylceramide was present in his urin...

Descripción completa

Detalles Bibliográficos
Autores principales: Umeda, Toshiko, Hashimoto, Seiji, Noriyasu, Kazuyuki, Takamura, Ayumi, Fujisaki, Miwa, Eto, Yoshikatsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785549/
https://www.ncbi.nlm.nih.gov/pubmed/27081550
http://dx.doi.org/10.1038/hgv.2015.44
Descripción
Sumario:Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism caused by a mutation in the GLA gene. We sequenced the α-galactosidase A gene (GLA) of a patient who had been clinically diagnosed with late-onset Fabry disease. Abundant globotriaosylceramide was present in his urine, which indicated typical Fabry disease. Here, we report a novel hemizygous mutation, c.207C>A (Phe69 Leu), which caused a mild/late-onset form of Fabry disease.

Ejemplares similares