Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.

ABSTRACT:

Background

Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often experience delay in diagnosis, which has adverse effects on their health. TS14 is often characterized as either Prader-Willi-like, Silver-Russell-like or as a Silver-Russell spectrum disorder.

Methods

This study describes 15 patients with TS14 who visited the Dutch Reference Center for Prader-Willi-like from December 2018 to January 2022.

Results

Eight patients had UPD(14)mat and seven a methylation defect. The most common symptoms were intra-uterine growth retardation (IUGR)

SUBMITTER: Juriaans AF 

PROVIDER: S-EPMC9656486 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature