Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Temple syndrome (TS14) and Prader-Willi syndrome (PWS) are imprinting disorders with overlapping clinical features in infants and children.
• TS14 is often overlooked as a diagnosis when PWS is suspected.
• Genetic testing for PWS is common in pediatric populations presenting with developmental delay, obesity, or hypotonia.

Observation:

• This study investigated the frequency of TS14 in patients undergoing genetic testing for PWS.
• A methylation-sensitive MLPA kit was used to detect deletions and methylation abnormalities in the 14q32 chromosomal region for TS14 testing.
• 143 patient samples submitted for PWS testing in 2014-2015 were analyzed for TS14.

Findings:

• Temple syndrome (TS14) was diagnosed in 3 out of 143 patients (2.1%).
• Prader-Willi syndrome (PWS) was also confirmed in 3 patients within the same cohort.
• Clinical details of the confirmed TS14 cases were documented.

Implications:

• The findings suggest that Temple syndrome (TS14) may be significantly underdiagnosed.
• TS14 should be considered a critical differential diagnosis in children evaluated for PWS.
• Increased awareness and targeted testing for TS14 are warranted in relevant pediatric cases.