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Article
Genetics & Heredity
Cora M. Taylor et al.
Summary: This study aimed to measure the phenotypic effect of 16p11.2 duplications and quantify the modulating effect of familial background on cognitive and social outcomes. The results showed that 16p11.2 duplications led to lower cognitive and social functioning, while familial background significantly influenced the expression of these traits. Understanding variable expressivity in CNV disorders has important implications for anticipatory clinical care.
GENETICS IN MEDICINE
(2023)
Article
Multidisciplinary Sciences
Triin Kikas et al.
Summary: This study analyzed the genome-wide CNV profile in men with SPGF and found that the proportion of CNVs >1 Mb was twice as high in SPGF patients compared to controls. Additionally, seven patients carried microdeletions or microduplications that were linked to severe congenital conditions.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Silvia Sanchez et al.
Summary: This study describes the variation in frequencies of common CNVs in the Mexican-Mestizo population. The frequencies of four common CNVs were found to be unexpectedly high in the Mexican-Mestizo individuals compared to the HapMap reference. However, when compared to an ethnically related reference population, these differences were significantly reduced or even disappeared.
MOLECULAR CYTOGENETICS
(2023)
Article
Medicine, General & Internal
Ting-Ting Huang et al.
Summary: This study reported a pediatric patient with 1q21.1 microduplication syndrome and conducted a literature review to determine the correlation between 1q21.1 microduplication and its phenotypes. Genomic DNA was extracted from the patient and her family members, and a 1.58 Mb duplication in the 1q21.1 region was identified using whole exon sequencing. The study concluded that whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome, which is important for genetic counseling and early intervention.
WORLD JOURNAL OF CLINICAL CASES
(2023)
Article
Biotechnology & Applied Microbiology
Kangqi Lv et al.
Summary: This study developed a functional deleteriousness-based model of CNV (dbCNV) to predict the pathogenicity of CNVs and provide a deeper understanding of the pathogenic mechanism.
Article
Genetics & Heredity
Cintia B. Santos-Reboucas et al.
Summary: This article reports a male patient with a novel duplication on Xp11.22, resulting in severe intellectual disability. The study also found increased levels of HUWE1 mRNA and different X-chromosome inactivation patterns in the carriers. The clinical, molecular, and neurological findings of this case expand the phenotype spectrum in Xp11.22 copy gains involving the HUWE1 gene in both males and female carriers.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Bart P. G. H. van der Sanden et al.
Summary: Genome sequencing (GS) is a technique that can provide novel diagnoses for patients who remain undiagnosed. In a study involving patients with neurodevelopmental disorders, GS and standard of care (SOC) had similar diagnostic yield, but GS identified two additional conclusive diagnoses and four additional possible diagnoses. GS comprehensively identified all variants in a single experiment, suggesting it is a more efficient genetic diagnostic workflow.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Multidisciplinary Sciences
Marc P. Forrest et al.
Summary: This study reveals that the 16p11.2 duplication increases the risk of autism and schizophrenia, and proteomics analysis shows that it causes dysregulation of synaptic and epilepsy-associated protein networks. The authors also demonstrate that correcting Prrt2 gene dosage can rescue circuit hypersynchrony and behavioral phenotypes. These findings contribute to our understanding of the biological basis of neuropsychiatric disorders and epilepsy.
NATURE COMMUNICATIONS
(2023)
Review
Psychiatry
Ciara J. Molloy et al.
Summary: The heritability of intelligence or general cognitive ability is estimated to be 41% and 66% in children and adults, respectively. Rare copy number variants (ND-CNV) are associated with neurodevelopmental and neuropsychiatric conditions and can contribute to the variability in cognitive ability. This review examines the impact of ND-CNV on intelligence and cognitive function in both general population and clinical cohorts, and identifies genotype-specific cognitive phenotypes. The findings show that ND-CNV have cognitive impacts across different populations, but more studies and larger sample sizes are needed to determine ND-CNV-specific effects.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Genetics & Heredity
Hosneara Akter et al.
Summary: This study aims to identify clinically relevant CNVs, genes, and phenotypic characteristics in an ethnically underrepresented homogenous population in Bangladesh. The results show the critical role of CNVs in the pathogenesis of neurodevelopmental disorders (NDD) and highlight the importance of genetic diagnosis, therapy, and management for NDD patients.
FRONTIERS IN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Jiyong Wang et al.
Summary: ZNF711 is a gene on the X chromosome that is associated with X-linked intellectual disability. Clinical findings confirm this association and a specific methylation signature has been identified.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Audiology & Speech-Language Pathology
Henrik Smeds et al.
Summary: IP3 malformation deafness is a rare hereditary condition that causes hearing loss, and children with this condition may also have neurodevelopmental and mental health issues. Cochlear implantation is a feasible option for hearing restoration in these children, but requires a multidisciplinary team approach to address their overall healthcare needs.
Article
Xiaohui Wen et al.
Article
Oncology
Gabor Bedics et al.
Summary: There is growing evidence supporting the role of germline mutations in pediatric central nervous system tumors, and next-generation sequencing panels can help detect them. MUTYH gene variants are now known to be associated with various extraintestinal cancers, in addition to their role in polyposis syndrome. Using a multigene next-generation sequencing panel, two mutant pediatric high-grade diffuse gliomas were identified along with germline MUTYH variants. These findings suggest a possible association between germline MUTYH mutations and CNS malignancies, particularly in pediatric histone H3-mutant gliomas.
GENES CHROMOSOMES & CANCER
(2022)
Article
Biochemistry & Molecular Biology
Gareth Chapman et al.
Summary: Copy Number Variation (CNV) at the 1q21.1 locus is associated with a range of neurodevelopmental and psychiatric disorders in humans, with deletion or duplication of this locus leading to reciprocal phenotypes in neuronal development. These differences are also conserved in a mouse model of 1q21.1 deletion, indicating potential for drug interventions through targeting calcium channels in neurons with 1q21.1 deletion or duplication.
MOLECULAR PSYCHIATRY
(2022)
Article
Medicine, Research & Experimental
Meihua Li et al.
Summary: Copy number variations (CNVs) in chromosome 16p11.2, including deletions and duplications, are not rare and are known to be a common genetic cause of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. This study reports a case of prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2022)
Article
Health Care Sciences & Services
Yu-Shu Huang et al.
Summary: In this study, the genetic deficits in two siblings affected with ID and ASD were investigated. A microdeletion at 22q13.3 resulting in the haploinsufficiency of SHANK3 and several nearby genes was found in the younger sister, leading to the diagnosis of Phelan-McDermid syndrome. Whole-genome sequencing analysis in the family identified several rare, likely pathogenic variants in seven genes implicated in neurodevelopmental disorders in the elder brother. These variants have only moderate clinical effects and were transmitted from unaffected parents. The results suggest that the combination of multiple genes with moderate effects is part of the genetic mechanism of neurodevelopmental disorders.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Genetics & Heredity
E. N. Tolmacheva et al.
Summary: This review focuses on monogenic and chromosomal mutations associated with X-linked intellectual disability, discussing the developmental peculiarities of the clinical phenotype with different mutations. It specifically highlights X-linked CNVs (microdeletions and microduplications), the most frequently found chromosomal microaberrations in patients with intellectual disability. Additionally, the review discusses the modifying effect of X chromosome inactivation on the phenotype of carriers of X-linked mutations and considers the challenges in interpreting the clinical significance of X-linked CNVs.
RUSSIAN JOURNAL OF GENETICS
(2022)
Article
Genetics & Heredity
Antonela Blazekovic et al.
Summary: This study evaluates the impact of genetic testing and investigates the diagnostic utility of targeted gene panel sequencing in epilepsy patients. The findings show that this testing method can increase diagnostic accuracy and identify previously undescribed variants. Patients with developmental delay had a higher diagnostic yield. Additionally, early genomic diagnosis is important for treatment and avoiding unnecessary procedures in children with epilepsy.
Review
Neurosciences
Diego Alejandro Rodriguez-Gomez et al.
Summary: Among the biological processes examined, genes involved in synaptic integrity, neurotransmitter metabolism, and cell adhesion molecules were significantly associated with the development of autism. The over-representation analysis using the KEGG pathway database revealed enriched pathways related to neurotransmitter receptors and their subunits. Key biological processes included social behavior, vocalization behavior, learning, and memory. The cellular components of proteins encoded by the genes identified in this systematic review were primarily the postsynaptic membrane and cell junction.
Article
Biochemistry & Molecular Biology
Guillaume Huguet et al.
Summary: The study reveals that genomic copy number variants have an impact on intelligence, especially on genes intolerant to haploinsufficiency. However, the effect sizes of duplications remain unclear, and it is unknown if the effect of multigenic CNVs are driven by a few intolerant genes or distributed across tolerant genes.
MOLECULAR PSYCHIATRY
(2021)
Review
Cell Biology
Daniel Moreno-De-Luca et al.
Summary: The genomic architecture of neurodevelopmental psychiatric disorders (NPD), including rare and common variants, can together explain a significant proportion of NPD. This paper discusses a framework to understand the genetic and clinical heterogeneity in NPD, highlighting the complexities of different genomic variants contributing to one clinical diagnosis or different clinical diagnoses arising from a single genomic variant.
CURRENT OPINION IN GENETICS & DEVELOPMENT
(2021)
Article
Genetics & Heredity
Erin Rooney Riggs et al.
GENETICS IN MEDICINE
(2020)
Letter
Medical Laboratory Technology
Soyoung Park et al.
ANNALS OF LABORATORY MEDICINE
(2020)
Article
Neurosciences
Deborah J. Morris-Rosendahl et al.
DIALOGUES IN CLINICAL NEUROSCIENCE
(2020)
Article
Genetics & Heredity
Mehdi Zarrei et al.
NPJ GENOMIC MEDICINE
(2019)
Article
Multidisciplinary Sciences
Ewoud R. E. Schmidt et al.
SCIENTIFIC REPORTS
(2019)
Article
Neurosciences
Toru Takumi et al.
CURRENT OPINION IN NEUROBIOLOGY
(2018)
Article
Genetics & Heredity
Virpi M. Leppa et al.
AMERICAN JOURNAL OF HUMAN GENETICS
(2016)
Review
Genetics & Heredity
Claudia M. B. Carvalho et al.
NATURE REVIEWS GENETICS
(2016)
