Abstract:
BACKGROUND:Copy number variants (CNVs) are genetic rearrangements, such as deletions and duplications, which result in a deviation from the normal number of copies of a given gene segment. CNVs are implicated in many neuropsychiatric disorders. Deletions of the human chromosomal region 16p11.2 are one of the most common genetic linkages to autism spectrum disorders (ASD). However, ASD is not the only presenting feature, and many patients with 16p11.2 deletions present with a variable clinical spectrum. METHODS:To better understand the nature and presentation of the syndrome throughout development, we present three different, unrelated clinical cases of children with 16p11.2 deletion and provide a detailed description of their clinical manifestations. RESULTS:Cognitive and motor impairments were characteristic of all three patients with 16p11.2 deletion, despite the differences in the extent and clinical presentation of impairment. Two patients had a clinical diagnosis of ASD and one showed several ASD traits. In addition, two patients also had severe speech and language impairments, which is in line with previous reports on 16p11.2 phenotypes. Although epilepsy and obesity have been frequently associated with 16p11.2 deletion, only one patient had a diagnosis of epilepsy and none of the three cases were obese. CONCLUSION:This variation in clinical phenotype renders correct clinical interpretation and diagnosis challenging. Therefore, it is critical to elucidate the variable clinical phenotypes of rare CNVs, including 16p11.2 deletions, to help guide clinical monitoring and counselling of patients and families.
journal_name
Psychiatr Genetjournal_title
Psychiatric geneticsauthors
Fetit R,Price DJ,Lawrie SM,Johnstone Mdoi
10.1097/YPG.0000000000000259subject
Has Abstractpub_date
2020-10-01 00:00:00pages
136-140issue
5eissn
0955-8829issn
1473-5873journal_volume
30pub_type
杂志文章abstract::For a period in the mid-1990s, soon after the discovery of the involvement of trinucleotide repeat expansions in fragile-X syndrome (both A and E), Huntington's disease, myotonic dystrophy, and a number of hereditary ataxias, there was a clear sense that this new disease mechanism might provide answers for psychiatric...
journal_title:Psychiatric genetics
pub_type: 杂志文章,评审
doi:10.1097/YPG.0000000000000141
更新日期:2016-08-01 00:00:00
abstract::A number of studies have observed associations between the serotonin 2A (5-HT2A) receptor and mental disorders. Here, we investigated correlations between polymorphisms (-1438G/A and 102T/C) of the 5-HT2A gene and personality traits in healthy Japanese volunteers (n = 239). The personality traits were evaluated using ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200503000-00011
更新日期:2005-03-01 00:00:00
abstract:OBJECTIVE:Novelty seeking is a trait that has been consistently associated with problem behaviours. There is evidence for heritability of novelty seeking, but the molecular genetic basis of the trait is still widely unclear. METHODS:The interaction between polymorphisms of catechol-O-methyltransferase (COMT) and serot...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833a212f
更新日期:2010-12-01 00:00:00
abstract::As an initial step for genome-wide association studies, we sought an association between schizophrenia and 34 microsatellite markers on chromosomes 19, 20, 21 and 22 by a case-control design. The samples examined for an association were 168 schizophrenic patients and 146 control subjects in the Japanese population. Th...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200010030-00006
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVE:Recent research implicates the catechol-O-methyltransferase (COMT) ValMet polymorphism in stress sensitivity, through modulation of hypothalamic-pituitary-adrenal (HPA) function. In healthy samples, Met homozygosity has been associated with greater HPA activity (i.e., cortisol) and stress sensitivity, though ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833a1ff3
更新日期:2010-08-01 00:00:00
abstract::A 50-year-old man presented with worsening, virtually lifelong, chorea and progressive behavioural disturbance, involving disinhibition and hoarding, over 10 years. Clinical assessment revealed chorea, dysarthria, areflexia, an inappropriately jovial, impulsive manner and neuropsychological evidence of frontosubcortic...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200512000-00012
更新日期:2005-12-01 00:00:00
abstract::A polymorphic 44-nucleotide insertion/deletion in the promoter region of the serotonin transporter gene (5-HTTLPR) has been shown to affect the level of expression of the serotonin transporter protein. An association between anxiety-related behavioural traits and the short form of the 5-HTTLPR has been reported. We de...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199800820-00001
更新日期:1998-07-01 00:00:00
abstract::A number of human hereditary neuromuscular and neurodegenerative disorders are caused by the expansion of trinucleotide repeats within certain genes. The molecular mechanisms that underlie these expansions are not yet known. We have analyzed six trinucleotide repeat-containing loci [spinocerebellar ataxias (SCA1, SCA3...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200112000-00004
更新日期:2001-12-01 00:00:00
abstract:OBJECTIVES:The NOTCH4 gene has a promoter polymor-phism at position -25, which leads to the three genotypes TT, CT and CC. These have been suggested to present a novel independent genetic risk factor for schizophrenia. We conducted a prospective case-control study to explore the impact of NOTCH4 T-25C polymorphism on t...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000056681.82896.6b
更新日期:2003-06-01 00:00:00
abstract::Basal serum thyroid-stimulating hormone (TSH) levels may predict antidepressant efficacy in patients with major depressive episodes (MDE), but data are inconsistent. As the SS genotype of the 5-HTTLPR polymorphism has been associated with a lower antidepressant efficacy in women with MDE, we aimed at assessing the rel...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3283457be5
更新日期:2011-10-01 00:00:00
abstract:OBJECTIVES:PDLIM5 (ENH, LIM protein) [Postsynaptic Density-95/discs large/Zone occludens-1 (PDZ) and Lin-11, Isl-1, Mec-3 (LIM) domain 5;] is an adaptor protein that selectively binds protein kinase C-epsilon (PKC epsilon) to N-type Ca channels in brain neurons. As it has been suggested that alterations in protein kina...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3282fb003d
更新日期:2008-06-01 00:00:00
abstract::Altered intracellular calcium homeostasis and oxidative stress are involved in the pathophysiology of bipolar disorder (BD)-I. To explore the genes contributing to these abnormalities, we examined the association with BD of the iPLA2β (PLA2G6), a signaling enzyme that mobilizes the arachidonic acid signaling cascade a...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32835d700d
更新日期:2013-04-01 00:00:00
abstract::The glycine receptor, which is a member of the ligand-gated ion channel superfamily, mediates synaptic inhibition in the spinal cord and other brain regions. This superfamily has been implicated in the pathogenesis of schizophrenia and other psychiatric diseases. The complete coding sequence and splice junctions of th...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200103000-00009
更新日期:2001-03-01 00:00:00
abstract::Dysregulation of the immune system has been suggested to play a role in the complex etiology of obsessive-compulsive disorder. In this context, tumor necrosis factor-alpha is considered an interesting candidate for genetic studies as overproduction of tumor necrosis factor-alpha, which may be genetically modulated, ca...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000185026.12687.92
更新日期:2006-02-01 00:00:00
abstract:OBJECTIVE:Tryptophan hydroxylase is the rate-limiting enzyme in the serotonin biosynthetic pathway and plays an important role in the regulation of serotonin levels. Recently, a brain-specific isoform, tryptophan hydroxylase 2 or n-tryptophan hydroxylase, has been discovered. Some studies reported genetic and functiona...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3280111877
更新日期:2007-02-01 00:00:00
abstract:BACKGROUND:Recent research has shown that loneliness, a common problem in adolescence, may have a genetic basis. The evidence, though, was limited mostly to serotonin-related and dopamine-related genes. In the present study, we focused on the oxytocin receptor gene (OXTR). METHODS:Associations were examined in a longi...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e328363f631
更新日期:2013-10-01 00:00:00
abstract::Disturbed glutamatergic neurotransmission has been implicated in the pathogenesis of schizophrenia and bipolar disorder, with the N-methy-D-aspartate receptors being in the focus of research. The NR1 subunit, which is encoded by the gene GRIN1, plays a key role in the functionality of N-methy-D-aspartate receptors. We...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000242194.36150.2b
更新日期:2006-10-01 00:00:00
abstract::Chromosome 12q is a region of interest for the genetics of bipolar affective disorder because of reports of apparent cosegregation between this disorder and Darier's disease in a small number of families. Findings from a recent linkage study suggest that this chromosomal region may contain a susceptibility gene for bi...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199524000-00005
更新日期:1995-01-01 00:00:00
abstract::Several studies suggest increased activity of phospholipase A2 in schizophrenic patients. In the present study, variants of four genes coding for phospholipase A2 enzyme groups (sPLA2, cPLA2, iPLA2 and PAFAH) were analysed in a case-control sample using 240 schizophrenic patients and 312 healthy controls. No differenc...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200409000-00007
更新日期:2004-09-01 00:00:00
abstract::The purpose of the present study was to investigate the association between the monocyte chemoattractant protein-1 (MCP-1) promoter -2518 polymorphism and schizophrenia. One hundred and twenty-three schizophrenic inpatients and 114 healthy controls participated in this study. Genotyping was performed by polymerase cha...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000128764.07344.06
更新日期:2004-06-01 00:00:00
abstract:INTRODUCTION:Recent biopsychological research on stress-related psychopathology shows promising evidence for the 5-hydroxytryptamine (5-HT) transporter linked polymorphic region (5-HTTLPR) genotype by life event interaction on depression. Yet, there appears to be variability in replicating such findings. From leading c...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32835fe3e1
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND:Genetic, environmental, and cognitive factors play a role in the development and recurrence of depression. More specifically, cognitive biases have been associated with depression risk genes and life events. Recently, the mineralocorticoid receptor NR3C2 gene, and in particular the rs5534 polymorphism, has b...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000081
更新日期:2015-06-01 00:00:00
abstract::We have undertaken a search for polymorphic sequence variation within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2 (DISC1 and DISC2), which are both novel genes that span a translocation breakpoint strongly associated with schizophrenia and related psychoses in a large Scottish family. A scan of the c...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200106000-00003
更新日期:2001-06-01 00:00:00
abstract:OBJECTIVE:To explore the effect of APOE polymorphisms on patients with cognitive impairments in The Chinese Han population. MATERIALS AND METHODS:A total of 1027 cases with Alzheimer's disease (AD), 40 cases with vascular dementia (VaD), 28 cases with behavioral variant frontotemporal dementia (bvFTD), 54 cases with s...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000126
更新日期:2016-06-01 00:00:00
abstract:OBJECTIVES:Monozygotic twins with near-identical genotypes and discordance for complex diseases represent an exceptional resource to ascertain disease etiology. This strategy has been particularly effective with the availability of high-resolution complete individual genome sequencing. The challenge is using effective ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000162
更新日期:2017-04-01 00:00:00
abstract::Developmental dyslexia (DD) is a neurobiological disorder featured by reading disabilities. In recent years, genome-wide approaches provided new perspectives to discover novel candidate genes of DD. In a previous study, rs9313548 located downstream of FGF18 showed borderline genome-wide significant association with DD...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000187
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVES:Susceptibility to heroin dependence is strongly influenced by genetic factors with heritability estimates as high as 0.7. A number of genes, as well as environmental factors, are likely to contribute to its etiology. Not all individuals who have ever tried heroin at some stage during their lifetime become de...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000208
更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:A long-term controversy exists on whether or not major psychotic disorders can be discretely divided into two groups, for example, schizophrenia and bipolar disorder. Many genes and polymorphisms have been studied for a role in both disorders, including the Val66Met (also known as rs 6265 or G196A) variant o...
journal_title:Psychiatric genetics
pub_type: 杂志文章,meta分析
doi:10.1097/YPG.0b013e32801da2e2
更新日期:2007-06-01 00:00:00
abstract:BACKGROUND:Serotonin transporter gene (SLC6A4) variations have been proposed as an explanation for interindividual differences in selective serotonin reuptake inhibitors (SSRIs) effects. Quantitative assessment of genetic influences is necessary to evaluate whether genetic testing before antidepressant prescription wou...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3283050aca
更新日期:2008-08-01 00:00:00
abstract::Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for Anorexia Nervosa. Follo...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000172
更新日期:2017-08-01 00:00:00