4.7 Article

Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis

Related references

Note: Only part of the references are listed.
Article Medical Laboratory Technology

Prenatally diagnosed 16p11.2 copy number variations by SNP Array: A retrospective case series

Nian Liu et al.

Summary: This study retrospectively analyzed a series of cases from a single tertiary referral center that performed prenatal single nucleotide polymorphism (SNP) array testing from April 2017 to December 2021. A total of 30 fetuses carrying 16p11.2 copy number variations (CNVs) were identified. The results showed that 16p11.2 CNVs have variable prenatal phenotypes and are frequently inherited from parents with a milder or normal phenotype.

CLINICA CHIMICA ACTA (2023)

Article Clinical Neurology

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

Dana Marafi et al.

Summary: SLC38A3 is a novel disease gene for developmental and epileptic encephalopathy, and the likely pathophysiology of the disease is perturbations in glutamine homeostasis.

BRAIN (2022)

Article Pediatrics

Neonatal encephalopathy plasma metabolites are associated with neurodevelopmental outcomes

Barbara D. Friedes et al.

Summary: Plasma metabolites can predict neurological outcomes in neonatal encephalopathy and supplement current clinical predictors. The study presents novel associations of plasma metabolites from the first 24 hours of life and 2-year neurodevelopmental outcomes for infants with NE. The discovery of metabolic pathway supplementations and/or rescue mechanisms may serve as adjunctive therapies for NE.

PEDIATRIC RESEARCH (2022)

Article Environmental Sciences

Association of both prenatal and early childhood multiple metals exposure with neurodevelopment in infant: A prospective cohort study

Chaoqun Liu et al.

Summary: This study systematically assessed the associations between metals exposure during pregnancy and childhood and neurodevelopment in children aged 2-3 years. The results showed that prenatal aluminum and cadmium exposure were negatively associated with neurodevelopmental outcomes. The study also revealed that infants of different sexes had different sensitivities to metal exposure, and metal exposure during the first and second trimester had a more significant impact on neurobehavioral development.

ENVIRONMENTAL RESEARCH (2022)

Article Medicine, General & Internal

Association between plasma proteome and childhood neurodevelopmental disorders: A two-sample Mendelian randomization analysis

Jian Yang et al.

Summary: This study investigated the causal effects of plasma proteome on ASD, ADHD, and TS using the two-sample Mendelian Randomization approach. The findings indicate that increased levels of MAPKAPK3 and MRPL33 are associated with a higher risk of ASD, while increased MANBA levels are associated with a lower risk of ADHD. These causal associations were robust in sensitivity analysis, suggesting the involvement of the MAPK/ERK signaling pathway and mitochondrial dysfunction in the pathogenesis of ASD, and a role of beta-mannosidase deficiency in the development of ADHD.

EBIOMEDICINE (2022)

Article Genetics & Heredity

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion

You Wang et al.

Summary: This study investigated prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome and evaluated its pregnancy outcome. It found that the syndrome can cause various systemic ultrasound abnormalities in fetuses, with skeletal, cardiovascular, central nervous system, and digestive system malformations being common. The study also identified two genes associated with the syndrome and highlighted the role of chromosomal microarray analysis in diagnosis and counseling.

GENES (2022)

Article Biochemistry & Molecular Biology

TAOK2 rescues autism-linked developmental deficits in a 16p11.2 microdeletion mouse model

Robin Scharrenberg et al.

Summary: This study demonstrates the essential role of the Taok2 gene in neuronal migration, particularly the impact of de novo mutations associated with ASD on migration, and highlights the critical role of Taok2 in cortical development.

MOLECULAR PSYCHIATRY (2022)

Article Health Care Sciences & Services

Metabolomic Signatures of Autism Spectrum Disorder

Danielle Brister et al.

Summary: This study utilized large-scale metabolomic analysis to identify altered metabolic pathways in children with ASD, highlighting the associations between metabolism, behavior, and development.

JOURNAL OF PERSONALIZED MEDICINE (2022)

Article Biochemistry & Molecular Biology

Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents

Dinka Smajlagic et al.

Summary: The study analyzed the inheritance patterns of 26 recurrent NDD CNVs in 13 genomic regions in 12,252 mother-father-child trios from the Norwegian Mother, Father, and Child Cohort Study. The total prevalence of recurrent NDD CNVs in live-born children was estimated to be 0.48%, with approximately a third being de novo variants. The prevalence of different NDD CNVs varied, highlighting the importance of the results for genetic diagnostics and counseling.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

Article Clinical Neurology

Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability

Mei Yang et al.

Summary: The retrospective study investigated the genetic etiology of pediatric patients with epilepsy and comorbid intellectual disability, suggesting a diagnostic strategy for such cases. The overall diagnostic yield for genetic aberrations was 33.3%, with CNVs and SNVs each accounting for 50% of the cases. Subgroup analyses based on age of seizure onset and ID severity were conducted.

EPILEPSY RESEARCH (2021)

Article Neurosciences

Expression of Genes in the 16p11.2 Locus during Development of the Human Fetal Cerebral Cortex

Sarah Morson et al.

Summary: The 16p11.2 CNV affects the gene dosage of 29 protein coding genes, potentially contributing to ASD symptoms, with genes such as KIF22 and ALDOA being significantly expressed in neural progenitors.

CEREBRAL CORTEX (2021)

Article Neurosciences

Delayed motor learning in a 16p11.2 deletion mouse model of autism is rescued by locus coeruleus activation

Xuming Yin et al.

Summary: The study revealed delayed motor learning in mice with 16p11.2 deletion, associated with abnormal ensemble activity and delayed spine remodeling in the motor cortex. Activation of locus coeruleus noradrenergic neurons rescued the motor-related abnormalities in these mice.

NATURE NEUROSCIENCE (2021)

Review Cell Biology

16p11.2 deletion syndrome

Wendy K. Chung et al.

Summary: Deletions in the 16p11.2 BP4 and BP5 region are a common cause of neurodevelopmental disorders and autism spectrum disorder. Patients often experience delays in speech, phonology, and language, lower intelligence quotient, as well as motor coordination difficulties and autism.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2021)

Editorial Material Cell Biology

International System for Human Cytogenetic or Cytogenomic Nomenclature (ISCN): Some Thoughts

Thomas Liehr

CYTOGENETIC AND GENOME RESEARCH (2021)

Article Biochemistry & Molecular Biology

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Ida E. Sonderby et al.

MOLECULAR PSYCHIATRY (2020)

Review Neurosciences

16P11.2 Copy Number Variations and Neurodevelopmental Disorders

Benjamin Rein et al.

TRENDS IN NEUROSCIENCES (2020)

Article Obstetrics & Gynecology

Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing

Jing Wang et al.

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2018)

Article Genetics & Heredity

Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions

Shaobin Lin et al.

PRENATAL DIAGNOSIS (2018)

Article Multidisciplinary Sciences

Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions

Carly Demopoulos et al.

SCIENTIFIC REPORTS (2018)

Article Multidisciplinary Sciences

Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub

Katherine D. Blizinsky et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)

Article Medicine, General & Internal

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

N. Wu et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Biochemistry & Molecular Biology

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

A. M. Maillard et al.

MOLECULAR PSYCHIATRY (2015)

Article Genetics & Heredity

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

Ian Blumenthal et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Biotechnology & Applied Microbiology

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love et al.

GENOME BIOLOGY (2014)

Article Genetics & Heredity

Estimates of penetrance for recurrent pathogenic copy-number variations

Jill A. Rosenfeld et al.

GENETICS IN MEDICINE (2013)

Article Biochemistry & Molecular Biology

A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis

Duncan B. Sparrow et al.

Article Biochemistry & Molecular Biology

Recurrent 16p11.2 microdeletions in autism

Ravinesh A. Kumar et al.

HUMAN MOLECULAR GENETICS (2008)

Article Biochemistry & Molecular Biology

Cytoscape: A software environment for integrated models of biomolecular interaction networks

P Shannon et al.

GENOME RESEARCH (2003)