Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing
| Autor: | Nicole Leibold, Marcel M.A.M. Mannens, Therese van Amelsvoort, Silvana van Koningsbruggen, Nikita van de Burgt, Leonie Behrens, Pilar Martinez-Martinez |
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| Přispěvatelé: | Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R3 - Neuroscience, MUMC+: MA Med Staf Spec Psychiatrie (9) |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Heterozygote
Psychosis DISORDERS Homocystinuria inborn errors of metabolism HOMOCYSTEINE Bioinformatics DIAGNOSIS Gene variants PICK TYPE-C ACUTE INTERMITTENT PORPHYRIA DNA sequencing 03 medical and health sciences 0302 clinical medicine medicine Humans Mass Screening genetic disorders HOMOCYSTINURIA Gene Biological Psychiatry Likely pathogenic Acute intermittent porphyria next generation sequencing WILSONS-DISEASE business.industry SECONDARY MUTATIONS Mental Disorders High-Throughput Nucleotide Sequencing medicine.disease 030227 psychiatry Psychiatry and Mental health MANIFESTATIONS Underlying disease business Metabolism Inborn Errors 030217 neurology & neurosurgery Reference genome |
| Zdroj: | Journal of psychiatric research, 138, 125-129. Elsevier Limited Journal of Psychiatric Research, 138, 125-129. Elsevier Science |
| ISSN: | 1879-1379 0022-3956 |
| Popis: | Inborn errors of metabolism (IEMs) are a group of rare genetic disorders which, when emerging later in life, are often characterized by neuropsychiatric manifestations including psychosis. This study aimed to determine whether it would be useful to screen patients presenting with a psychotic disorder for IEMs by a single blood sample using Next Generation Sequencing (NGS), in order to detect rare, treatable causes of psychotic disorders. Blood was drawn from 60 patients with a psychotic disorder, with a duration of illness of less than 5 years. Blood samples were screened for 67 genes using NGS (Illumina® MiSeq sequencing technique). The results were compared to the human reference genome (GoNL, n = 498). The identified variants were classified according to the ACMG classification. For the psychotic patients, 6 variants of a likely pathogenic (class 4, n = 2) or pathogenic (class 5, n = 4) origin were found. As all variants were heterozygous, no patients were considered to be affected by an IEM. For the GoNL control group, 73 variants of a likely pathogenic (class 4, n = 31) or pathogenic (class 5, n = 42) origin were found. All of these found variants were heterozygous. Therefore, these individuals from the control group were considered to be a carrier only. Thus, no patients were identified to have an IEM as an underlying disease using this approach. However, NGS may be useful to detect variants of genes associated with IEMs in an enriched subgroup of psychotic patients. |
| Databáze: | OpenAIRE |
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