A specific mutation in TBL1XR1 causes Pierpont syndrome.

ABSTRACT:

Background

The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont syndrome. The aim of the present study was to detect and study the cause of Pierpont syndrome.

Methods

We used whole-exome sequencing to analyse four unrelated individuals with Pierpont syndrome, and Sanger sequencing in two other unrelated affected individuals. Expression of mRNA of the wild-type candidate gene was analysed in human postmortem brain specimens, adipose tissue, muscle and liver. Expression of RNA in lymphocytes in patients and controls was additionally analysed. The variant protein was expressed in, and purified from, HEK293 cells to assess its effect on protein folding and function.

Results

We i

SUBMITTER: Heinen CA 

PROVIDER: S-EPMC4853543 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature