Premium
Temple syndrome as a differential diagnosis to Prader–Willi syndrome: Identifying three new patients
Author(s) -
Lande Asgeir,
Kroken Mette,
Rabben Kai,
Retterstøl Lars
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38533
Subject(s) - medicine , multiplex ligation dependent probe amplification , differential diagnosis , genetic testing , pediatrics , hypotonia , overweight , genetics , pathology , obesity , biology , gene , exon
The two imprinting syndromes Temple syndrome (TS14) and Prader–Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14. A total of 143 samples were included. The most frequent indications for testing were developmental delay, overweight, and hypotonia. For TS14 testing, we performed a methylation‐sensitive MLPA‐kit detecting deletions and methylation aberrations in chromosomal region 14q32. TS14 was confirmed in 3 out of 143 patients (2.1%). In comparison, PWS was also confirmed in three patients. Brief clinical descriptions of the TS14 patients are presented. Temple syndrome is presumably underdiagnosed, and should be considered when testing children for PWS.