Article
Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII.
Archives of Iranian medicine - 1 Apr 2024
Ebrahimi Amir Hossein, Bolhassani Manzar, Zarei Mohammad Reza, Heidari Matin, ArdeshirDavani Amin, Mehrtash Amir Hosein, Shiri Zahra, Heidari Masoud, Soleyman-Nejad Morteza, Taskhiri Mohammad Hossein, Norouzbeigi Arefeh, Heidari Mansour
Abstract excerpt
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.
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