A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report.

ABSTRACT:

Background

Cowden's syndrome (OMIM:158350), a rare genetic disorder (incidence ~ 1:250,000), is caused by mutations of the tumor suppressor gene PTEN. In this report, we describe clinical manifestations of a 56-year-old patient diagnosed with Cowden's syndrome and his family with PTEN mutations. The family has an unusually high number of offspring with autism spectrum disorder.

Case presentation

Except for his 80-year-old Caucasian father, all of our index case's living Caucasian kindred (three children, brother, and nephew) had PTEN mutations and macrocephaly. Prior to genetic testing, his mother and sister died of breast cancer at 42 and 38 years old, respectively. After PTEN mutation was identified, our patient underwent complete thyroidectomy (histology showing micropapi

SUBMITTER: Gruhl SL 

PROVIDER: S-EPMC6260738 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature