Overview of genetic testing in Prader-willi syndrome

Abstract

Introduction Prader-Willi syndrome (PWS) is a complicated neurodevelopmental genetic disorder stemming from the loss of expression of imprinted genes within the 15q11-q13 region. It is characterized by impaired hypothalamic development and function. Infants with PWS typically present hypotonia and feeding difficulties, which in later stages of childhood progress to hyperphagia, obesity, and endocrine dysfunctions. However, early diagnosis and treatment have proven effective in mitigating obesity and related co-morbidities in patients with PWS. Moreover, the precise molecular classification of PWS is crucial to tailor the appropriate treatment strategies and provide valuable genetic counseling.