Article
Identification of a putative founder variant in SLC30A10 associated with hypermanganesemia with dystonia 1 in Iranian patients: a case series and literature review.
BMC medical genomics - 23 Jul 2026
Eslahi Atieh, Alizadeh Farzaneh, Salmaninejad Arash, Ghanaatgar-Kasbi Sadaf, Kojur Karim Naghipour, Kahaei Mir Salar, Hamzehzadeh Leila, Alerasool Masoome, Mohajeri Mahsa Sadat Asl, Moghaddam Azam Rastegar, Farrokhi Shima, Yousefi Yasamin, Toosi Mehran Beiraghi, Mojarrad Majid
Abstract excerpt
Hypermanganesemia with dystonia 1 (HMNDYT1) is an rare autosomal recessive condition resulting from pathogenic variants in the SLC30A10 gene. The presence of biallelic variants in this gene results in systemic accumulation of manganese, which leads to dystonia, polycythemia, and liver dysfunction. We conducted clinical and genetic evaluations of seven affected individuals from six Iranian consanguineous families,...
Read the complete abstract on PubMedTopics
- Humans
- Cation Transport Proteins
- Iran
- Founder Effect