Identification of a Novel Homozygous Mutation in PRDM12 Gene in a

Arch Iran Med · Apr 2024

Case Reports

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII.

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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- 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, and Mansour Heidari.
- Ariagene Medical Genetics Laboratory, Qom, Iran.
- Arch Iran Med. 2024 Apr 1; 27 (4): 223226223-226.
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.© 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.

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Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII.

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