Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder characterized by infantile significant hypotonia and feeding difficulties, followed by morbid obesity secondary to hyperphagia, short stature, functionally deficient gonads, intellectual disabilities and behavioral problems. It is caused by lack of expression of imprinting genes on the paternally inherited chromosome 15q11.2-q13 region. The genetic mechanism responsible for Prader-Willi syndrome can rarely be inherited. Here we report a highly unique case of two siblings who share this condition by describing a case of two siblings with PWS. And methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and single nucleotide polymorphism array (SNP array) demonstrate a 417 kbp microdeletion within 15q11.2 region derived from the paternal grandmother. To the best of our knowledge, the present case is the first to report a familial PWS case in China. In addition to previous studies, the present study contributes to consensus regarding imprinting defects results from a failure to erase the maternal imprinting during spermatogenesis.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology