Proximal 11p duplication is often derived from a balanced translocation in a parent or inherited from a carrier (father or mother) with normal phenotype, and part of this duplication is a de-novo mutation. The main clinical manifestations in carriers are: mental retardation, eye abnormalities such as abnormal optic nerve morphology, strabismus, hyperopia, nystagmus, and facial abnormalities such as wide nose bridge and tapered fingers. A woman underwent amniocentesis at 18 weeks of gestation because the additional report of noninvasive prenatal testing plus (NIPT-Plus) revealed 13-Mb duplication from 11p13 to 11p11.2. Chromosomal microarray analysis (CMA) on the uncultured amniocytes revealed a 12.57 Mb chromosomal duplication in the region of 11p13p11.2, ultrasound examination showed no dysmorphisms or intrauterine growth restriction in the fetus. At 40 weeks of gestation, the expectant mother gave birth vaginally to a male baby. The baby's growth parameters at birth were in the normal ranges. The baby received a complete physical examination, and the results were normal. Combination of NIPT, prenatal ultrasound, karyotype analysis, CMA, and genetic counselling is helpful for the prenatal diagnosis of copy number variations.

Although psychotic symptoms have occasionally been associated with pathogenic CHD2 variants, few articles have provided phenotypic information in this respect or described treatment response. We describe an 18-year-old female with a 15q26.1 interstitial deletion that disrupts CHD2, who at age 12 developed a variety of psychotic symptoms that responded well to quetiapine therapy. She also exhibited improvement in her cognitive functioning, language skills, and social responsiveness, which coincided with the initiation of metformin. This is only the third report to characterize antipsychotic treatment response in an individual harboring a pathogenic CHD2 variant, and the first to do so in relation to quetiapine. Although anecdotal, psychotic symptoms that develop in relation to pathogenic CHD2 variants may respond to atypical antipsychotic therapy, and metformin may have additional benefits in this population with respect to behavioral/social deficits. However, more evidence is needed before any firm conclusions can be drawn.

Schizophrenia is a chronic brain disorder and needs objective diagnostic biomarkers. MicroRNAs are highly expressed in the nervous system. The study investigated the expression and clinical values of serum miR-320d in schizophrenia patients. In addition, the underlying mechanism was preliminarily examined via bioinformatic analysis. Serum samples were collected from 57 patients with first-episode schizophrenia and 62 healthy controls. The cognitive function of patients was assessed via Measurement and Treatment Research to Improve Cognition in Schizophrenia Consensus Cognitive Battery (MCCB) consisting of seven domains. Serum miR-320d levels were tested via qRT-PCR. The miRNA target predictions were obtained from Target Scan, and annotated through Gene Ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. Based on the GSE167630 dataset, downregulated serum miR-320d in schizophrenia was identified, which was determined in the serum of schizophrenia patients. Serum miR-320d presented a conspicuous relationship with MCCB score in both the control group and the schizophrenia group. After adjusting for age, sex, BMI, and education, serum miR-320d was still independently related to the occurrence of schizophrenia. It can identify schizophrenia cases from healthy ones with an AUC of 0.931. The Go enrichment analysis indicated that the target genes were mainly enriched in homophilic cell adhesion and cell-cell adhesion via plasma-membrane adhesion molecules, and GTPase activity and guanosine diphosphate (GDP) binding. Rap1 signaling pathway was enriched via KEGG analysis. Serum miR-320d can be taken as a candidate marker for the diagnosis of schizophrenia. Its regulatory role in neuronal cell adhesion and Rap1 signaling pathway might be the potential underlying mechanism of miR-320d in schizophrenia.

Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down syndrome, monogenic syndromes such as tuberous sclerosis, Fragile X, and Rett syndrome, and microdeletion syndromes such as Phelan-McDermid syndrome helps to shed light on the genetic basis of autism spectrum disorder. The association between ASD and achondroplasia has been reported twice in the literature. In this article, we report Turkish patients who were born as identical twins from IVF pregnancy of 34 and 36-year-old parents, clinically and molecularly diagnosed with achondroplasia, and diagnosed with ASD at the age of 39 months. Our case is the first twin patient with the coexistence of achondroplasia and autism. We discuss environmental and genetic factors contributing to the development of ASD.

The myelin oligodendrocyte glycoprotein ( MOG ) gene plays an important role in myelination and has been implicated in the genetics of white matter changes in obsessive-compulsive disorder (OCD). We examined the association between variations of two microsatellite markers across MOG for association and total white matter volume as measured using volumetric MRI in 37 pediatric OCD patients 7-18 years. We compared white matter volumes between microsatellite allele groups using analysis of covariance with covariates of age, gender, and total intracranial volume. After controlling for multiple comparisons, a significant relationship was detected between MOG (TAAA)n and increased total white matter volume ( P = 0.018-0.028). Although preliminary, our findings provide further support for the involvement of MOG in OCD.

Schizophrenia is a debilitating disease that is associated with higher rates of death by unnatural causes including suicide. Exposure to stressful events is an important risk factor for suicidal ideation (SI); however, the mechanisms that link stress, SI, and suicide remain unclear. Epigenetic processes are involved in both vulnerability to suicidal behavior and stress. Therefore, we sought to study the relationship between epigenetic modifications and suicidal behavior and stress. This pilot study was conducted on 39 patients diagnosed with schizophrenia (54% men and age 45.5 ± 12.7). We analyzed the effects of (a) stress exposure and (b) the mediation of DNA methylation [via an epigenetic wide association study (EWAS) of more than 450 000 CpG sites across the genome] on SI severity. The top CpG site mediating the effect of global stress exposure on SI was cg27660192 located in an intergenic region on chromosome 11, exerting a facilitating effect on worsening SI through DNA hypomethylation. These preliminary results indicate that DNA methylation in peripheral tissues can shed light on the complex relationship between stress and SI in schizophrenia.

Morphine/heroin may increase oxidative stress in drug-dependent persons. The imbalance between oxidative stress and antioxidant defense mechanisms can accelerate the shortening of telomere length. This article reports two sets of data; comparison of relative telomere length between heroin-dependent patients and healthy control group, as well as, investigation of the effect of morphine on the relative telomere length of human SH-SY5Y cells treated by morphine. Study participants were composed of 163 heroin-dependent patients and 166 unrelated healthy controls. SH-SY5Y cells were treated with (5 μM) morphine hydrochloride and incubated for 40 and 60 days. The relative telomere length was calculated as the T/S (telomere/single-copy gene) ratio using 36B4 as a reference for each sample, using quantitative real-time PCR. The mean (± SE) value of relative telomere length was 4.81 ± 0.21 and 6.38 ± 0.23 in leukocytes of heroin-dependent and control groups, respectively. The telomere length was significantly decreased in heroin-dependent participants (t = 4.97; df = 327; P < 0.0001). The relative telomere length in cells treated with morphine for 60 days was 4.50 ± 0.14 and in untreated cells was 5.75 ± 0.08. The difference was highly significant (t = 7.68; df = 4; P = 0.002). Our present findings indicate that morphine and dependency on heroin are significantly associated with shorter telomeres. The present findings may help to explain some of the adverse effects of drug dependency on health such as accelerating biologic processes related to aging.

Angelman syndrome is a neurogenetic disorder resulting from the loss of expression of the ubiquitin-protein ligase E3A gene on chromosome 15. Problematic behaviors including attention-deficit/hyperactivity disorder (ADHD) symptoms of hyperactivity, impulsivity and inattention are highly prevalent in Angelman syndrome. The efficacy, safety and tolerability of stimulant medications in children with Angelman syndrome for the treatment of ADHD symptoms have not been previously reported. We describe three boys with Angelman syndrome who were treated with open-label stimulant medications for ADHD symptoms. Stimulant medications were highly intolerable, and treatment had to be discontinued after limited dosing in all three cases due to marked increases in hyperactivity and impulsivity along with worsened distractibility. The findings of this study suggest that stimulant medications may be ineffective and poorly tolerated in children with Angelman syndrome.

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. Clinical data and test results were analyzed, and the exon region of ALD-related gene ABCD1 was sequenced by Sanger sequencing. 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 had the same three variants as the proband, but showed different clinical symptoms. The mother was the carrier of three variants. Multisite variants were uncovered in this family, which caused two different manifestations of adult-onset childhood cerebral ALD and adrenomyeloneuropathy. These findings further increase our knowledge about ABCD1 mutations and the associated phenotypes, which is beneficial for the genetic counseling of patients with X-ALD.