Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.

Abstract excerpt

INTRODUCTION: Biallelic variants in thiamine pyrophosphokinase 1 ( TPK1 ) are known to cause thiamine metabolism dysfunction syndrome 5 (THMD5). This disorder is characterized by neuroregression, ataxia and dystonia with basal ganglia abnormalities on neuroimaging. To date, 27 families have been reported with THMD5 due to variants in TPK1 . METHODS: We ascertained three individuals from three unrelated families....

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• Exome Sequencing
• Genetic Association Studies
• Genetic Predisposition to Disease
• Homozygote