A report of two atypical genetic cases of cherubism: Reduced penetrance and sporadic occurrence. Issue 2 (March 2021)

• Record Type: Journal Article
• Authors: AlAli, Ahmad M.; Dashti, Hussain; Al-Yahya, Yahya; Ali, Hamad
• Is Part Of: Journal of oral and maxillofacial surgery, medicine, and pathology. Volume 33:Issue 2(2021)
• Page Start: 234
• Page End: 238
• Publication Date: 2021-03
• Subjects: Cherubism -- SH3BP2 gene -- Inherited disorder -- Sporadic mutation -- Penetrance; Mouth -- Surgery -- Periodicals; Face -- Surgery -- Periodicals; Maxilla -- Surgery -- Periodicals; Oral medicine -- Periodicals; Mouth -- Diseases -- Pathogenesis -- Periodicals; Surgery, Oral -- Periodicals; Oral Medicine -- Periodicals; Pathology, Oral -- Periodicals; Face -- Surgery; Maxilla -- Surgery; Mouth -- Diseases -- Pathogenesis; Mouth -- Surgery; Oral medicine; Electronic journals -- Sciences; Electronic journals -- Medicine; Periodicals; 617.522059
• DOI: 10.1016/j.ajoms.2020.08.006
• Languages: English
• ISSNs: 2212-5566

Abstract

Abstract: Cherubism is a rare inherited disorder involving the jaws exclusively and mainly seen in the pediatric population. It has distinctive clinical features and shares radiographic and histopathologic characteristics with other fibro-osseous lesions. Cherubism is caused by a mutation in the SH3BP2 gene located on chromosome 4. Two atypical genetic cases of cherubism from different families that associated with SH3BP2 gene point mutations c.1253C > A and c.1258 G > A in exon 9 were reported. The first case, a 7 years old boy, showed reduced penetrance as the father who is carrying the same mutation did not show any phenotypic features of cherubism. While in the second case, a 6 years old boy, both of his parents proved to be negative for the mutation. Hence the mutation of the child has occurred sporadically. Although the disease seems to be a simple monogenic disease characterized by specific features, a varied genetic presentation can be expected. Understanding such potential influence could highlight possible therapeutic intervention for cherubism.