Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

  title={Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.},
  author={Alfredo Orrico and Lucia Galli and Sabrina Buoni and Alessandra Orsi and Giuseppina Vonella and Vincenzo Sorrentino},
  journal={Clinical genetics},
  volume={75 2},
Somatic mutations of the phosphatase and tensin (PTEN) gene have been frequently detected in many types of human cancer. However, germline mutations can determine multiple hamartoma syndromes and, as more recently ascertained, syndromes clinically characterized by autism associated with macrocephaly. To determine whether germline mutations of PTEN may lead to different phenotypes, we screened all the nine exons of the PTEN gene in 40 patients with neurodevelopmental disorders, with or without… CONTINUE READING