Identification of a Novel Homozygous Mutation in < em > PRDM12 < /em > Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII

Arch Iran Med. 2024 Apr 1;27(4):223-226. doi: 10.34172/aim.2024.32.ABSTRACTHereditary 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.PMID:38685849 | DOI:10.34172/aim.2024.32

Source: Archives of Iranian Medicine - April 30, 2024 Category: Middle East Health Authors: Amir Hossein Ebrahimi Manzar Bolhassani Mohammad Reza Zarei Matin Heidari Amin ArdeshirDavani Amir Hosein Mehrtash Zahra Shiri Masoud Heidari Morteza Soleyman-Nejad Mohammad Hossein Taskhiri Arefeh Norouzbeigi Mansour Heidari Source Type: research