Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients

Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the GALC gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11–12, in three patients using Multiplex Liga...

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Detalles Bibliográficos
Autores principales: Irahara-Miyana, Kaori, Enokizono, Takashi, Ozono, Keiichi, Sakai, Norio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173723/
https://www.ncbi.nlm.nih.gov/pubmed/30323943
http://dx.doi.org/10.1038/s41439-018-0027-5
Descripción
Sumario:Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the GALC gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11–12, in three patients using Multiplex Ligation-dependent Probe Amplification. We suggest that some patients in whom no or only a single pathogenic mutation is detected by Sanger sequencing may have exon deletions.

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