Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion

摘要

Here, we report on birth seasonality in Prader-Willi syndrome (PWS, OMIM #176270), a genetic disorder associated with various dysmorphic, neurological, endocrine, and psychiatric manifestations [Cassidy and Driscoll, 2009]. PWS is caused by the absence of expression of paternally derived genes located on the imprinted region at chromosome 15qll.2-ql3; micro deletions involving the paternally derived imprinted region and maternal uniparental disomy (UPD) 15 (UPD(15)mat) have been identified in approximately 70% and 25% of PWS patients, respectively [Cassidy and Driscoll, 2009]. In the remaining patients, the condition is caused by rare abnormalities such as epimutation and microdeletion of the PWS imprinting center [de Smith et al., 2009].