Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother
Dai Yang-Li1, Huang Ke1, Zou Chao-Chun2
1Department of Endocrinology, Children's Hospital Zhejiang University School of Medicine, Zhejiang, China.
Background:
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.
Case Characteristics:
Two siblings who both met the inclusion criteria for clinical diagnosis of PWS during neonatal period.
Outcome:
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.
Conclusion:
The findings may be helpful for better understanding of the underlying mechanism of this rare imprinting defect.
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