PIGG gene mutation associated with Uner Tan syndrome: A first case report

Abstract

Uner Tan syndrome (UTS) is a rare neurogenetic disorder characterized by poor cognition, dysarthric speech, and habitual quadrupedal locomotion, and is associated with cerebellar hypoplasia. Mutations in the VLDLR, CA8, WDR81, ATP8A2, and TUBB2B genes are commonly associated with UTS. However, here, we report the case of a patient presenting with quadrupedal locomotion and other clinical features similar to UTS caused by a mutation in the PIGG gene. To the best of our knowledge, this is the first case in which a mutation in the PIGG gene is associated with UTS. We believe that our finding will help broaden the genetic spectrum of the syndrome.