Cleveland Clinic Designated PTEN Clinical Center of Excellence

The PTEN Hamartoma Tumor Syndrome Foundation has designated Cleveland Clinic as one of only three PTEN Clinical Centers of Excellence in the United States. Cleveland Clinic’s PTEN Multidisciplinary Clinic provides clinical services and support for children and adults with a confirmed or possible diagnosis of PTEN hamartoma tumor syndrome and other disorders within the PHTS spectrum.

Clarifying Genetic Autism Risk in PTEN Patients

Germline mutations of the tumor suppressor gene PTEN are associated with a group of genetic disorders that increase the risk of certain cancers, cognitive and behavioral deficits, benign growths and tumors, and macrocephaly. A recent study suggests that copy number variations may act as genomic modifiers that influence the risk of autism spectrum disorder. Charis Eng, MD, PhD, discusses her latest discovery.

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