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[Genetic aspects of cherubism]
1Service de Chirurgie Plastique et Maxillo-faciale, CHU de Grenoble. mBrix@chu-grenoble.fr
Insights
Cherubism, a rare jaw condition, can occur sporadically. A recent case suggests a potential recessive transmission or a novel gene, differing from known dominant mutations.
Area of Science:
- Genetics
- Oral and Maxillofacial Surgery
- Pediatric Dentistry
Background:
- Cherubism is a rare, extensive cystic condition of the mandible, often diagnosed in children with jaw swelling.
- Familial inheritance patterns are recognized, with autosomal dominant cases linked to the SH3BP2 gene mutation.
Observation:
- A 14-year-old boy with late-diagnosed grade I cherubism is presented.
- Familial genomic analysis in Berlin did not identify mutations in the known candidate gene.
Findings:
- The case highlights sporadic occurrences of cherubism, distinct from previously identified autosomal dominant forms.
- Genetic analysis was negative for the SH3BP2 mutation, suggesting alternative genetic mechanisms.
Implications:
- This case supports hypotheses of recessive transmission or the involvement of an as-yet-unidentified candidate gene in cherubism.
- Further research into the genetic underpinnings of sporadic cherubism is warranted to understand its etiology and guide diagnosis.
Introduction:
Cherubism is an extensive kystic process of the mandibula. The diagnosis is often established in children presented swelling of the jaws. The familial determinism of cherubism is well-known, and recently autosomal dominant cases have been described with detection of the exon 9 - SH3BP2 mutation.
Observation:
We describe the case of a 14-year-old boy with grade I cherubism diagnosed late. The familial genomic analyze conducted in Berlin was negative for the recently identified candidate gene.
Discussion:
Apart from dominant cases cherubism sometimes occurs sporadically, some of the cases resulting from a neomutation of the candidate gene. The present case with familial bone homeostasis and dental disorders is an argument for the recessive transmission hypothesis or for another candidate gene.
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