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A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease.

ABSTRACT: Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations. We present an AxD case with a novel de novo three-base duplication mutation in GFAP resulting in E243dup.

SUBMITTER: Yasuda R

PROVIDER: S-EPMC5498426 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease.

Yasuda Rei R Yoshida Tomokatsu T Mizuta Ikuko I Nakagawa Masanori M Mizuno Toshiki T

Human genome variation 20170706

Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations. We present an AxD case with a novel de novo three-base duplication mutation in GFAP resulting in E243dup. ...[more]

PMID: 28690862

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