Background: Developmental delay in children under 5 years old, which occurs globally with an incidence of 10%-15%, is caused by multiple factors including genetics, prenatal conditions, perinatal complications, postnatal influences, social factors, and nutritional deficiencies. Gene variants such as , and play a significant role in protein deformation and downregulation of nuclear factor κB (NF-κB) activity.
Methods: A 3-year-old girl, who exhibits poor gross motor skills, personal-social development, auditory language, hand-eye coordination, and visual performance, was diagnosed with global developmental delay. Trio whole exome sequencing was conducted to identify the genetic etiology of her condition. The identified genetic etiology was then validated through Sanger sequencing and quantitative polymerase chain reaction (qPCR).
Results: Genetic analysis revealed that the patient had compound heterozygous variants in the gene. These include a c.1928del frameshift variant inherited from the unaffected father and a deletion in exon 12 inherited from the unaffected mother. According to the American College of Medical Genetics (ACMG) guidelines, these variants were classified as "likely pathogenic".
Conclusion: The study revealed that compound heterozygous gene variants cause developmental delay in a Chinese girl. These variants have been classified as having significant pathogenic effect according to the ACMG criteria, suggesting a recessive genetic pattern and highlighting the importance of prenatal testing for future offspring. Furthermore, our findings expand the genotype spectrum of the gene, and provide more comprehensive information regarding genetic counseling for children experiencing developmental delay.
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http://dx.doi.org/10.3389/fgene.2024.1415194 | DOI Listing |
Congenit Anom (Kyoto)
January 2025
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Eur J Pediatr
December 2024
Division of Child Neurology, Department of Paediatrics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Unlabelled: Phenylalanine (PA) levels below 360 µmol/L do not require treatment; however, cognitive deficits have been observed in patients with elevated PA levels, necessitating a safe upper limit for treatment and therapeutic objectives. The main purpose of this study is to evaluate the correlation between developmental assessments (Denver Developmental Screening Test-II [DDST-II] and Ankara Developmental Screening Inventory [ADSI]) and electroencephalogram (EEG) findings with blood PA levels and genotypic data in non-phenylketonuria mild Hyperphenylalaninemia (HPA) patients, to re-evaluate their treatment status based on potential adverse outcomes. This study encompassed 40 patients aged 1-5 years diagnosed with HPA and not on treatment, identified through initial blood PA levels, and monitored for a minimum of 1 year on an unrestricted diet.
View Article and Find Full Text PDFJ Child Psychol Psychiatry
December 2024
School of Academic Psychiatry, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Background: Attention-deficit/hyperactivity disorder (ADHD) is commonly attributed to neuro-cognitive deficits of genetic and/or prenatal/perinatal environmental origins. Sonuga-Barke proposed an alternative formulation, suggesting that ADHD behaviors are functional expressions of delay aversion-a strong motivational disposition to avoid or escape negative affective states evoked by delay. It is hypothesized that the strength of this disposition, though neuro-biologically rooted, is exacerbated by early negative social interactions during waiting-related encounters.
View Article and Find Full Text PDFExp Neurol
December 2024
Neuroscience Department, U.S. Army Medical Research Institute of Chemical Defense (USAMRICD), Aberdeen Proving Ground, MD, United States of America. Electronic address:
Exposure to organophosphorus nerve agents irreversibly inhibits acetylcholinesterase and may lead to cholinergic crisis and seizures. Although benzodiazepines are the standard of care after nerve agent-induced status epilepticus, when treatment is delayed for up to 30 min or more, refractory status epilepticus can develop. Adult male rodents are often utilized for evaluation of therapeutic efficacy against nerve agent exposure.
View Article and Find Full Text PDFEnviron Pollut
December 2024
Institute of Quality Standard and Testing Technology for Agro-products, Chinese Academy of Agricultural Sciences, and Key Laboratory of Agro-food Safety and Quality, Ministry of Agriculture and Rural Affairs, Beijing 100081, China. Electronic address:
The potential health risks of microplastics (MPs) and their combined exposure with heavy metals such as mercury (Hg) in aquatic environment are increasingly concerned recently. In this work, zebrafish embryos were exposed to different levels of polystyrene microplastics (PS-MPs, ∼0.1 μm) coupled with Hg(II) or/and MeHg at 20 μg/L, to investigate the tissue biodistribution and accumulation of PS-MPs and Hg species, and their interaction, as well as embryo toxicity, oxidative stress and metabolic profiles.
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