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Twin studies provide a unique opportunity to explore the genetic and environmental influences on autism spectrum disorder (ASD). By studying identical twins, who share identical DNA, and fraternal twins, who share about half of their DNA, researchers can estimate the heritability of autism by comparing the rates of when one twin is diagnosed with autism while the other is not in identical vs ...
Rett syndrome brain samples and autism brain samples show immaturity of dendrite spines and reduction of cell-body size due to errors in coupled regulation between MECP2 and EGR2. [62] However, because of the multigene involvement in autism, the MECP2 gene has only been identified as a vulnerability factor in autism. [63]
Mutations in this gene act in a dominant fashion. Mutations in this gene appear to cause hyperconnectivity between the neurons. A study conducted on 42,607 autism cases has identified 60 new genes, five of which had a more moderate impact on autistic symptoms. The related gene variants were often inherited from the participant's parents. [40]
ADNP syndrome is caused by non-inherited mutations in the ADNP gene. [10] Spanning about 40 kb of DNA, the ADNP gene maps to the chromosomal position chr20q13.13 in the human genome. [ 9 ] The protein produced from this gene helps control the activity ( expression ) of other genes through a process called chromatin remodeling .
Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder. [3]
Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases. [12] [23] This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism. [12]
As its name suggests, the condition is caused by mutations in the CHAMP1 gene, in chromosome 13q34. These mutations are most often missense or nonsense mutations. [ 1 ] They are usually sporadic , meaning the condition is not inherited from the parents.
The most common phenotypes, or symptoms, related to ASH1L mutations are autism spectrum disorder (ASD), epilepsy, intellectual disability, and attention deficit hyperactivity disorder (ADHD). The Simons Foundation Autism Research Initiative (SFARI) gives ASH1L a score of 1.1, indicating that ASH1L is a high confidence autism gene with the best ...