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Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review

Samantha N Hartin1, Waheeda A Hossain1, Nicolette Weisensel2

  • 1Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas.

American Journal of Medical Genetics. Part A
|February 14, 2018
PubMed

Insights

Prader-Willi syndrome (PWS) can stem from rare paternal microdeletions in the chromosome 15 imprinting center. This study details three siblings with PWS caused by such a microdeletion inherited from their father.

Area of Science:

  • Genetics
  • Developmental Biology
  • Endocrinology

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder.
  • It typically presents with obesity, short stature, hypotonia, and cognitive/behavioral issues.
  • PWS usually results from sporadic loss of paternal genes on chromosome 15, often via deletion of the 15q11-q13 region.

Purpose of the Study:

  • To report clinical and genetic findings in three adult siblings with PWS.
  • To investigate PWS caused by a microdeletion in the chromosome 15 imprinting center.
  • To summarize previously reported familial PWS cases.

Main Methods:

  • Clinical evaluation of affected siblings.
  • Genetic analysis to identify chromosomal abnormalities.
  • Review of literature on familial PWS cases.

Main Results:

  • Three adult siblings diagnosed with PWS.
  • PWS in these siblings was caused by a microdeletion in the chromosome 15 imprinting center.
  • This microdeletion was inherited from an unaffected father.
  • Nine of ten previously reported familial PWS cases without 15q11-q13 deletions involved paternal microdeletions in the PWS imprinting center.

Conclusions:

  • Familial PWS can result from microdeletions in the PWS imprinting center.
  • These microdeletions can be paternally inherited and affect gene regulation in the 15q11-q13 region.
  • Understanding these rare genetic mechanisms is crucial for diagnosing and managing PWS.

Keywords:
Prader-Willi syndrome (PWS)chromosome 15familial imprinting centermicrodeletion

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