Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother
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Date
2019-09
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Academy of Pediatrics
Abstract
Background: Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder causedby 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 diagnosisof 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 andpaternal grandmother had a normal phenotype. Conclusion: The findings may be helpfulfor better understanding of the underlying mechanism of this rare imprinting defect
Description
Keywords
Microdeletion, Mode of inheritance, Molecular genetic analysis
Citation
Dai Yang-Li, Huang Ke, Zou Chao-Chun, Guan-Ping Dong. Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother. Indian Pediatrics. 2019 Sep; 56(9): 789-791