Article
Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.
Clinical genetics - 1 Mar 2025
Biglari Sajjad, Nikuei Pooneh, Mir Atefeh, Vahidnezhad Hassan, Youssefian Leila, Moghaddam Atefeh Sohanforooshan, Tabatabaiefar Mohammad Amin, Saeidian Amir Hossein, Khorram Erfan, Fard Mohammad Ali Farazi, Farbood Zahra, Shahrooei Mohammad, Khorshid Hamid Reza Khorram, Esmaeilzadeh Emran
Abstract excerpt
Ataxia with Vitamin E Deficiency (AVED) is a rare autosomal recessive genetic disorder, that caused by pathogenic variants in the TTPA gene, which encodes the alpha-tocopherol transfer protein. This study investigates eight patients from three consanguineous Iranian families, using exome sequencing (ES) and Sanger sequencing to identify novel pathogenic variants in the TTPA gene. Two variants were identified:...
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