Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother
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Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder caused by failure of expression of paternally inherited genes in the PWS region of chromosome 15.
Two siblings who both met the inclusion criteria for clinical diagnosis of PWS during neonatal period.
Molecular genetic analysis demonstrated a 417-kb microdeletion within the 15q11.2 region inherited from siblings’ paternal grandmother, involving key genes of PWS, except for UBE3A, which may explain why their father and paternal grandmother had a normal phenotype.
The findings may be helpful for better understanding of the underlying mechanism of this rare imprinting defect.
KeywordsMicrodeletion Mode of inheritance Molecular genetic analysis
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Funding: This work is supported, in part, by grants from the National Natural Science Foundation of China (Grant No. 81170787, 81371215, 81670786), and the Zhejiang Provincial Program for the Cultivation of High-Level Innovative Health Talents (2014).