Close Topic Options

Autism & Shank3 Mutation

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

ASD is etiologically heterogeneous, with hundreds of highly penetrant genetic aberrations involved as causative factors. Among them, SHANK3 haploinsufficiency has been identified in about 0.5% of subjects with ASD. However, few familial ASD cases caused by mutations in SHANK3 have been identified [2]. Here we present three siblings with ASD where Whole Genome Sequencing (WGS), identified germline mosaicism for a new mutation in SHANK3. Ref. Source 6

Mutation Shank and Autism

Neuroscientists illuminate role of autism-linked gene

Neuroscientists have found that loss of the autism-linked Shank gene prevents brain synapses from maturing, in a study of fruit flies. Many genetic variants have been linked to autism, but only a handful are potent enough to induce the disorder on their own. Among these variants, mutations in a gene called Shank3 are among the most common, occurring in about 0.5 percent of people with autism. Ref. Source 2y.