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  1. Jun 15, 2022 · ASD is the leading cause of disability ... vitamin D exerts its effects on genes via the VDR gene, to which changes may be an ... (SNP) of oxytocin receptor (OXTR) gene and Autism Spectrum ...

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  2. Jun 26, 2023 · Abstract. While over 100 genes have been associated with autism, little is known about the prevalence of variants affecting them in individuals without a diagnosis of autism. Nor do we fully ...

  3. Aug 20, 2019 · Abstract. Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations. In the past decade, hundreds of genes have been identified that contribute to the serious deficits ...

    • Lauren Rylaarsdam, Alicia Guemez-Gamboa
    • 10.3389/fncel.2019.00385
    • 2019
    • Front Cell Neurosci. 2019; 13: 385.
  4. Aug 30, 2022 · SNV is a mutation within a gene sequence that causes loss of protein function by replacement of the amino acid sequence of the protein in the coding region (missense mutation) or a change to a ...

    • Yuka Yasuda
  5. Sep 15, 2021 · Genetic Factors. Autistic spectrum disorder is a complex disorder and multiple factors such as genetic factors, epigenetic modifications, and environmental factors are involved in the development of the autism disorder. Therefore, the inheritance pattern is not fully known. 9 10 ASD can be caused by a microdeletion of the 16p11.2 chromosome.

  6. Feb 26, 2021 · Abstract. Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental conditions characterized by early childhood-onset impairments in communication and social interaction alongside restricted and repetitive behaviors and interests. This review summarizes recent developments in human genetics research in autism ...

  7. Dec 5, 2019 · It is notable that severe mutations in ankyrin-G are also known to cause intellectual disability and autism. Or, if a person inherits a less severe form of the mutation in ankyrin-G, their synapses develop relatively normally in childhood. But during adolescence – when there is a big turnover of synapses as the brain matures – more of these ...

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