Dataset Information

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

ABSTRACT: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a genetic diagnosis can not be made. Using whole-genome sequencing, we identified a de novo 5'-UTR variant in SLC2A1, generating a novel translation initiation codon, severely compromising SLC2A1 function. This finding expands our understanding of the disease mechanisms underlying GLUT1DS and encourages further in-depth analysis of SLC2A1 non-coding regions in patients without variants in the coding region.

SUBMITTER: Willemsen MA

PROVIDER: S-EPMC5477372 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Willemsen Michèl A MA Vissers Lisenka Elm LE Verbeek Marcel M MM van Bon Bregje W BW Geuer Sinje S Gilissen Christian C Klepper Joerg J Kwint Michael P MP Leen Wilhelmina G WG Pennings Maartje M Wevers Ron A RA Veltman Joris A JA Kamsteeg Erik-Jan EJ

European journal of human genetics : EJHG 20170405 6

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a genetic diagnosis can not be made. Using whole-genome sequencing, we identified a de novo 5'-UTR variant in SLC2A1, generating a novel translation initiation codon, severely compromising SLC2A1 functi ...[more]

PMID: 28378819

Dataset Information

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Publications

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

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