Research Centre for Medical Genetics
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Mutations in the TMEM222 gene lead to a nervous system disorder

The Genome Editing Laboratory researchers together with the Molecular Genetic Diagnostics 1 Laboratory and the FSBI RCMG Counseling Department as part of an international team have described a new hereditary disease. The mutations in the TMEM222 gene cause the disorder, which is characterized by mental retardation and other features such as aggressive behavior, shyness, tremor, reduced muscle mass in the lower extremities, and moderate hypotonia. The study describes a total of 17 patients from nine families with mutations in the TMEM222 gene and a similar clinical picture from around the world (Russia, Pakistan, the United States, the Netherlands, Iran, Germany, etc.). The article assessed localization of the TMEM222 protein in the human brain and suggested its role in the development of the nervous system.

Polla DL, Fard MAF, Tabatabaei Z, Habibzadeh P, Levchenko OA, et al. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. Genetics in Medicine, 2021,