Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening
نویسندگان
چکیده
منابع مشابه
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurological deterioration. Recessive MLC1 mutations are observed in 75% of patients with MLC. Genetic-linkage studies failed to identify another gene. We recently showed that some patients without MLC1 mutations display the classical phenotype; others...
متن کاملMutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patient...
متن کاملTemporal lobe, autism, and macrocephaly.
BACKGROUND AND PURPOSE Because of increased prevalence of macrocephaly in autism, head size must be controlled for in studies that examine volumetric findings of the temporal lobe in autistic subjects. We prospectively examined temporal lobe structures in individuals with autism who were normocephalic or macrocephalic (head circumference > 97th percentile) and in control subjects who were normo...
متن کاملSubset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as overgrowth and macrocephaly. Therefore,...
متن کاملAtypical phonemic discrimination but not audiovisual speech integration in children with autism and the broader autism phenotype
When a speaker talks, the consequences of this can be heard (audio) and seen (visual). We use a novel visual phonemic restoration task to assess behavioral discrimination and neural signatures (ERP) of audiovisual processing in typically developing children with a range of social and communicative skill and in children with autism. In an auditory oddball design we presented two types of stimuli...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2014
ISSN: 1471-2350
DOI: 10.1186/1471-2350-15-26