Psychiatric symptoms found in some patients with chromosome disorders.
There is no doubt that genetic factors play a significant role in the origin of schizophrenia and other neuropsychiatric disorders. At the same time, only a few genes are implicated as major factors for the development of these conditions. The authors report an 18-year-old male who developed early onset psychiatric disorder (with catatonia, hallucinations, paranoia, aggression) at the age of 14. Genetic examination showed stop-gain mutation in the RCL1 gene located in the short arm of chromosome 9 (9p24.1) and microdeletion 2q13. The mutation was inherited from the father, who had anger control difficulties. To evaluate the role of RCL1, the authors studied expression of this gene in the neurons of the neonatal human brain and decided to analyze phenotypes of patients with small (< 1 Mb) deletions or duplications of 9p24.1, involving the RCL1 gene. They collected data from 9 patients with small deletions and 4 patients with small duplications. Two of 13 patients were too young to evaluate their neuropsychiatric status, while the others had intellectual disability (6), autism (3) or schizophrenia (2). The authors suggest that the neuropsychiatric problems in patients with deletions or duplications of 9p24.1 may be caused by malfunction of the RCL1 gene. The presence of additional del 2q13 in the proband, additional dup 2q13 in one of the patients with deletions, and del 16p11.2 in one of the patients with duplication, may all facilitate the predisposition to the neuropsychiatric phenotype.
Brownstein C.A. et al. “RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes”. “Molecular Psychiatry” 2021, online ahead of print.
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