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  2. 16p11.2 deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/16p11.2_deletion_syndrome

    16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability , as well as childhood-onset obesity .

  3. Heritability of autism - Wikipedia

    en.wikipedia.org/wiki/Heritability_of_autism

    Deletion (1), duplication (2) and inversion (3) are all chromosome abnormalities that have been implicated in autism. [22] These mutations themselves are characterized by considerable variability in clinical outcome and typically only a subset of mutation carriers meet criteria for autism.

  4. Causes of autism - Wikipedia

    en.wikipedia.org/wiki/Causes_of_autism

    The conclusion of these recent studies of de novo mutation is that the spectrum of autism is breaking up into quanta of individual disorders defined by genetics. [38] One gene that has been linked to autism is SHANK2. [39] Mutations in this gene act in a dominant fashion. Mutations in this gene appear to cause hyperconnectivity between the neurons.

  5. Mechanism of autism - Wikipedia

    en.wikipedia.org/wiki/Mechanism_of_autism

    For loci such as 16p11.2, 16p13.1, 22p11, and 22q13, deletion is associated with autism whereas duplication is associated with schizophrenia. Conversely, 1q21.1 and 22p11.2 duplication is associated with autism and deletion with schizophrenia. [46]

  6. Epigenetics of autism - Wikipedia

    en.wikipedia.org/wiki/Epigenetics_of_autism

    The disruptions, either from mutations or deletions, are associated with disorders such as Phelan-McDermid syndrome (PMS), schizophrenia, and ASD. SHANK 3 is the most studied gene from the SHANK gene family. Several studies have found that disruptions to SHANK 3 cause more severe cognitive impairments than disruptions to SHANK 1 or 2.

  7. 17q12 microdeletion syndrome - Wikipedia

    en.wikipedia.org/wiki/17q12_microdeletion_syndrome

    17q12 microdeletion syndrome is an autosomal dominant disorder, where one copy of the relevant mutation is enough to cause the condition. Most cases are de novo, or spontaneous mutations that do not occur in the proband's parents; [10] approximately 75% are de novo, while 25% are inherited. [4]

  8. Conditions comorbid to autism - Wikipedia

    en.wikipedia.org/wiki/Conditions_comorbid_to_autism

    NF-1 is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein, called neurofibromin 1, which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous system which can grow anywhere on the body.

  9. 9q34.3 deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/9q34.3_deletion_syndrome

    In the exception case, the mother transferred the EHMT1 point mutation on to her child as she was a carrier of this gene defect. According to Mitter, et al. (2012), the mother's phenotype of the NM_024757.4:c.2712+1G>A mutation displayed mosaicism at certain tissues. This mutation resulted in the disregard of exon 18 on the EHMT1 gene, as ...