Amir Hossein Ebrahimi
1,2 
, Manzar Bolhassani
1 , Mohammad Reza Zarei
3 , Matin Heidari
1,2 , Amin ArdeshirDavani
4, Amir Hosein Mehrtash
4, Zahra Shiri
1 , Masoud Heidari
1 , Morteza Soleyman-Nejad
1, Mohammad Hossein Taskhiri
1, Arefeh Norouzbeigi
1, Mansour Heidari
1,5* 1 Ariagene Medical Genetics Laboratory, Qom, Iran
2 Department of Cellular and Molecular Genetics, Islamic Azad University Qom Branch, Qom, Iran
3 Department of Cellular and Molecular Genetics, Islamic Azad University North Tehran Branch, Tehran, Iran
4 Cimorgh Medical IT Solutions, Tehran Iran
5 Department of Medical Genetics, Tehran University of Medical Sciences (TUMS), Tehran, Iran
Abstract
Hereditary sensory autonomic neuropathy type VIII (HSAN-VIII) is a rare genetic disease that occurs due to mutations in the PRDM12 gene. Here, we describe a novel homozygous mutation c.826_840dupTGCAACCGCCGCTTC (p.Cys276_Phe280dup) on exon 5 in the PRDM12 gene identified by WES and confirmed using Sanger sequencing method.