Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication
Etiopathogenesis of autism spectrum disorder (ASD) is highly heterogeneous. Genetic factors play a major role in the etiology of ASD, and 16p11.2 microdeletion is one of the best-known genetic abnormalities thought to be strongly linked to ASD. Conversely, 17q12 microduplication is observed relatively rarely, yet it is reported that 17q12 recurrent duplication also results in a predisposition to ASD. Additionally, 16p11.2 microdeletion is characterized by developmental delay, intellectual disability, ASD and seizures, while 17q12 recurrent duplication is thought to be related to intellectual disability, seizures, eye or vi...
Source: Psychiatric Genetics - December 1, 2021 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research

Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders
Conclusion The CNVs reported here involve regions not usually disrupted in patients with NDDs with two of them affecting only the expression of the long isoforms. Further studies will be needed to analyze the impact of these CNVs on gene expression regulation and to better understand their impact on the protein function. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - December 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Effects of vitamin D-related gene polymorphisms on attempted suicide
Objective Emerging evidence suggests that vitamin D might protect from attempted suicide. The study aimed to investigate the associations between single-nucleotide polymorphisms (SNPs) related to vitamin D levels identified in a large genome-wide association study and attempted suicide in rural China. Methods This 1:1 matched case–control study included altogether 510 suicide attempters and 510 community controls. Genotypes of four target SNPs (DHCR7-rs12785878, CYP2R1-rs10741657, GC-rs2282679, and CYP24A1-rs6013897) were determined, and a genetic risk score (GRS) was constructed to evaluate the combined effec...
Source: Psychiatric Genetics - December 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Explore the role of CR1 genetic variants in late-onset Alzheimer’s disease susceptibility
Conclusion These available data indicate that rs6656401 in CR1 is significant to increase LOAD risk. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - December 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Epigenetic studies in suicidal ideation and behavior
Most psychiatric disorders are associated with an elevated risk of suicide. Suicidal behavior is the product of the interaction of many risk factors, such as genetics and environmental factors. Hence, epigenetics research may help to understand the mechanisms leading to suicidal ideation and behavior. This review will discuss epigenetic studies in both suicidal ideation and behavior. Epigenetic modifications are likely to be important in both suicidal ideation and behavior. Most of the reviewed studies found significant epigenetic modifications linked with suicidal behavior rather than ideation. Although sizable research h...
Source: Psychiatric Genetics - December 1, 2021 Category: Genetics & Stem Cells Tags: Review Source Type: research

Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB
Due to their low frequency and some atypical presentations, inborn errors of metabolism are frequently misdiagnosed or underdiagnosed, which hinders the correct management of these patients. To illustrate that, here we present a patient that, at early school age, had learning disabilities compared to her classmates, especially for writing. She completed basic education in a regular school and was transferred to a secondary school for students with special needs. At 18 years of age, she presented a first psychiatric abrupt outbreak: she spent a month screaming and without sleeping. Behavioral problems then became apparent...
Source: Psychiatric Genetics - October 1, 2021 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Analysis of 200 000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral
Conclusions The results conform exactly with the expectation under the null hypothesis. It seems unlikely that the use of common, poorly defined phenotypes will produce useful advances in understanding genetic contributions to affective disorder and it might be preferable to focus instead on obtaining large exome-sequenced samples of conditions such as bipolar 1 disorder and severe, recurrent depression. This research has been conducted using the UK Biobank Resource. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - October 1, 2021 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Protocol for a pharmacogenetic study of antidepressants: characterization of drug-metabolizing profiles of cytochromes CYP2D6 and CYP2C19 in a Sardinian population of patients with major depressive disorder
This study is poised to clarify whether the different metabolizing phenotypes related to CYP2D6 and CYP2C19 could have an impact on the clinical efficacy of antidepressants and whether the frequency of these phenotypes of metabolization shows differences in the population of Sardinian patients compared to other Caucasian populations. The sample is being recruited from patients followed-up and treated at the Psychiatric Unit of the Department of Medical Science and Public Health, University of Cagliari and the University Hospital Agency of Cagliari (Italy). The study design includes three approaches: (1) a pharmacogenetic a...
Source: Psychiatric Genetics - October 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

CYP2C19 polymorphisms are associated with severity of depression at initial evaluation and after the treatment independently of the prescribed medications: 4 weeks prospective study
Conclusions Intermediate CYP2C19 polymorphism-predicted activity was associated with more severe depression after an empirical treatment trial. The lack of association between the prescription of CYP2C19-metabolised drugs and treatment response calls for a further look into the role of endogenous substrates of CYP2C19. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - October 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Mediating effect of genome-wide DNA methylation on suicidal ideation induced by perceived stress
Stress is an important risk factor for suicidal ideation, but the mechanisms that link stress, suicidal ideation and neurobiology remain unclear. Epigenetic mechanisms are involved in both vulnerability to suicidal behavior and stress. This is a pilot study of 60 patients with schizophrenia spectrum disorders (36 men and 24 women), with an average age of 43.75 ± 12.24 years. We analyzed the effects of (1) perceived stress and (2) the mediation of genome-wide methylation (~450 000 CpG sites) on suicidal ideation severity. The top CpG site mediating the effect of stress on suicidal ideation was the cg10782349 locate...
Source: Psychiatric Genetics - October 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene
This study summarized the clinical characteristics of X-linked adrenoleukodystrophy (X-ALD) patients in this family, and two different manifestations of the same variants in a Chinese family were reported in this article. That conducted a follow-up study to further clarify the characteristics of this disease. Basic methods Clinical data and test results were analyzed, and the exon region of ALD-related gene ABCD1 was sequenced by Sanger sequencing. Main results Gene analysis showed that there were three ABCD1 variants in the proband, c.1047C>A, c.1415-1416delAG and c.1548G>A. The elder brother of the proband ...
Source: Psychiatric Genetics - October 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Epigenetic marks in suicide: a review
Suicide is a complex phenomenon and a global public health problem that involves several biological factors that could contribute to the pathophysiology of suicide. There is evidence that epigenetic factors influence some psychiatric disorders, suggesting a predisposition to suicide or suicidal behavior. Here, we review studies of molecular mechanisms of suicide in an epigenetic perspective in the postmortem brain of suicide completers and peripheral blood cells of suicide attempters. Besides, we include studies of gene-specific DNA methylation, epigenome-wide association, histone modification, and interfering RNAs as epig...
Source: Psychiatric Genetics - October 1, 2021 Category: Genetics & Stem Cells Tags: Review Article Source Type: research

Metformin, valproic acid, and starvation induce seizures in a patient with partial SLC13A5 deficiency: A case of pharmaco-synergistic heterozygosity: Erratum
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - July 16, 2021 Category: Genetics & Stem Cells Tags: Erratum Source Type: research

Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences
A recent report describes neurodevelopmental disorder in a total of three unrelated patients with de novo truncating variants in the HIRA gene. 200 632 subjects who have undergone exome sequencing by the UK Biobank were investigated to identify any variants predicted to cause HIRA haploinsufficiency. Four were found, three with frameshift variants and one with a stop variant. One of these subjects had depression but the others did not have any major neuropsychiatric phenotypes. Variants causing haploinsufficiency of HIRA are very rare but when they do occur it seems that they are not always associated with neurodevelopment...
Source: Psychiatric Genetics - July 16, 2021 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

A case of White–Sutton syndrome arising from a maternally-inherited mutation in POGZ
We describe their clinical features and compare them with clinical data of patients with WHSUS from the literature. Our finding broadens the spectrum of POGZ mutations and provides a good example of precision medicine through the combination of exome sequencing and clinical testing. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - July 16, 2021 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research