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Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother

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Abstract

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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Funding

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).

Author information

Authors and Affiliations

  1. Department of Endocrinology, Children’s Hospital Zhejiang University School of Medicine, Zhejiang, China

    Dai Yang-Li, Huang Ke & Dong Guan-Ping

  2. Department of Child Healthcare, Children’s Hospital Zhejiang University School of Medicine, Zhejiang, China

    Zou Chao-Chun

Authors
  1. Dai Yang-Li
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  2. Huang Ke
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  3. Zou Chao-Chun
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  4. Dong Guan-Ping
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Contributions

Contributors: Dai YL, Huang K: diagnosed and managed the case, and drafted the initial manuscript; Dong GP, Zou CC supervised the patient care and reviewed and revised the manuscript. All authors approved the final manuscript and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Zou Chao-Chun.

Additional information

Competing Interest: None stated.

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Yang-Li, D., Ke, H., Chao-Chun, Z. et al. Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother. Indian Pediatr 56, 789–791 (2019). https://doi.org/10.1007/s13312-019-1626-z

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  • DOI: https://doi.org/10.1007/s13312-019-1626-z

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