Identification of a Novel Homozygous Mutation in Prdm12 Gene in a Patient With Hereditary Sensory and Autonomic Neuropathy Type Viii Publisher Pubmed



Ebrahimi AH^{1, 2} ; Bolhassani M¹ ; Zarei MR³ ; Heidari M^{1, 2} ; Ardeshirdavani A⁴ ; Mehrtash AH⁴ ; Shiri Z¹ ; Heidari M^{1, 2} ; Soleymannejad M¹ ; Taskhiri MH¹ ; Norouzbeigi A¹ ; Heidari M^{1, 2}
Source: Archives of Iranian medicine Published:2024

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. © 2024 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.