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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
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.
Background:
Cherubism is a rare fibro-osseous disorder that almost exclusively affects the maxilla and mandible.
Case Report:
We report on three affected males in three generations in family A, and ten affected patients in family B. The youngest affected relative in family A also had craniosynostosis. His father and grandfather had cherubism and clubbed fingers.
Results And Discussion:
Cherubism was mapped to region 4p16.3. Because of the associated craniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubism. The inheritance pattern is autosomal dominant with variable expression. The penetrance is 100% in males and 50-70% in females. We found incomplete penetrance in males, which does not conform with all publications.