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[Clinical and molecular genetic observations on families with cherubism over three generations]

M Petschler1, M Stiller, B Hoffmeister

  • 1Abteilung für Zahnärztliche Chirurgie und Röntgenologie, Klinik für Kieferchirugie und plastische Gesichtschirurgie, Universitätsklinikum Benjamin Franklin, Berlin. michael.petschler@ukbf.fu-berlin.de

Mund-, Kiefer- Und Gesichtschirurgie : MKG
|March 29, 2003
PubMed

Insights

Cherubism, a rare fibro-osseous disorder, is linked to chromosome 4p16.3. This genetic study reveals an autosomal dominant inheritance pattern with variable expression and incomplete penetrance in males.

Area of Science:

  • Genetics
  • Medical Genetics
  • Human Genetics

Background:

  • Cherubism is a rare, inherited fibro-osseous condition.
  • It primarily affects the jawbones (maxilla and mandible).

Observation:

  • Case studies detail affected individuals across three generations in one family.
  • Associated conditions observed include craniosynostosis and clubbed fingers.
  • Ten patients from a second family were also studied.

Findings:

  • Cherubism locus mapped to chromosome region 4p16.3.
  • Autosomal dominant inheritance with variable expression confirmed.
  • Penetrance is 100% in males and 50-70% in females, with observed incomplete male penetrance.

Implications:

  • Excludes FGFR3 as a candidate gene due to associated craniosynostosis.
  • Provides insights into cherubism genetics and inheritance patterns.
  • Highlights the importance of considering variable expression and incomplete penetrance in genetic counseling.
Abstract

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