Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia.

ABSTRACT:

Background

Germline mutations in PTEN are associated with the PTEN hamartoma tumor syndrome (PHTS), an umbrella term used to describe a spectrum of autosomal-dominant disorders characterized by variable phenotypic manifestations associated with cell or tissue overgrowth. We report a boy who developed severe progressive abdominal distention due to a dramatic adipose mass from the age of 7 months and developed recurrent hypoinsulinemic hypoglycemia that led to seizures at the age of 4 years.

Methods

Trio-based whole-genome sequencing was performed by using blood DNA from the child and his parents. The possible pathogenic variants were verified by Sanger sequencing. Functional characterization of the identified variant was completed by western blot.

Results

The child inh

SUBMITTER: Liu J 

PROVIDER: S-EPMC7057095 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature