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Abstract
The PTEN gene, better known as PTEN tyrosine phosphatase, is a tumor suppressor gene on chromosome 10q23, it is the second most frequently mutated / deleted gene in cancer. The genetic alteration of this gene can create hamartomas, which are observed in hamartomatous tumor syndromes associated with the PTEN gene. The associated syndromes are a heterogeneous group of clinical disorders that share a germ mutation, characterized by multiple hamartomas, overgrowth, neoplasms that can appear anywhere in the body. This can synergize with mutations in other genes contributing to a small subset of children diagnosed with autism disorder spectrum disorder associated with macrocephaly, as well as other related syndromes. These disorders include Cowden syndrome, Bannayan Riley Ruvalcaba syndrome, Lhermitte-Duclos disease in adulthood and autism spectrum disorder associated with macrocephaly. It has been observed that approximately one fifth of these syndromes are directly associated with autism spectrum disorder which is a neurodevelopmental disorder, which begins in early childhood and is characterized by a deterioration in social interaction and communication, accompanied by repetitive and stereotyped behaviors.
Keywords
References
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