Academy of Medical Sciences of I.R. Iran Archives of Iranian Medicine 1029-2977 27 4 2024 04 01 Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII 223 226 10.34172/aim.2024.32 EN Amir Hossein Ebrahimi https://orcid.org/0000-0001-9132-1798 Manzar Bolhassani https://orcid.org/0009-0006-8716-9280 Mohammad Reza Zarei https://orcid.org/0000-0002-2634-7892 Matin Heidari https://orcid.org/0009-0008-7053-4784 Amin ArdeshirDavani Amir Hosein Mehrtash Zahra Shiri https://orcid.org/0009-0007-4659-9441 Masoud Heidari https://orcid.org/0000-0002-0599-3166 Morteza Soleyman-Nejad Mohammad Hossein Taskhiri Arefeh Norouzbeigi Mansour Heidari https://orcid.org/0000-0002-6214-4638 Journal Article 10.34172/aim.2024.32 2023 10 12 2024 02 24 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.