An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.
Spectrum: Autism Research News
Tag: genetic testing
Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.
Integrating genetic analyses into studies of babies’ brain development could help us understand how autism-related genes contribute to autism traits.
As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.
Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.
A novel method to evaluate the strength of the evidence linking autism to specific genes could reveal which ones are most useful to screen for.
People with fragile X syndrome in Colombia are diagnosed at age 27, on average, according to the first study to assess diagnosis in the country. By comparison, the average age of fragile X diagnosis in the United States is younger than 4.
People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.
Mutations in genes that encode a histone, which gives structure to chromosomes, can lead to developmental delay and congenital anomalies.