Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

ABSTRACT:

Background

Germline mutations in the phosphatase PTEN are associated with diverse human pathologies, including tumour susceptibility, developmental abnormalities and autism, but any genotype-phenotype relationships are poorly understood.

Methods

We have studied the functional consequences of seven PTEN mutations identified in patients diagnosed with autism and macrocephaly and five mutations from severe tumour bearing sufferers of PTEN hamartoma tumour syndrome (PHTS).

Results

All seven autism-associated PTEN mutants investigated retained the ability to suppress cellular AKT signalling, although five were highly unstable. Observed effects on AKT also correlated with the ability to suppress soma size and the length and density of dendritic spines in primary neurons. Co

SUBMITTER: Spinelli L 

PROVIDER: S-EPMC4316932 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature