A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature.

Abstract

OBJECTIVES:

The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histopathological laboratory tests and a review of the literature.

STUDY DESIGN:

This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A panoramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents were clinically normal. Peripheral blood was collected from all participants and genomic DNA sequencing was carried out.

RESULTS:

A missense mutation was found in the two affected siblings and their asymptomatic mother. The mutation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9.

CONCLUSIONS:

The present study emphasized the importance of further clinical and molecular investigation even when only a single case of cherubism is identified within a family. Genotype-phenotype association studies in individuals with cherubism are necessary to provide important insights into the molecular mechanisms associated with this disease.

• Authors: Ahmet-Ercan Sekerci, Burhan Balta, Munis Dundar, Ying Hu, Ernst-J Reichenberger, Osman-A Etoz, Sinan Nazlim, Ibrahim-Sevki Bayrakdar
• Journal: Medicina oral, patologia oral y cirugia bucal (Med Oral Patol Oral Cir Bucal) Vol. 19 Issue 4 Pg. e340-4 (Jul 01 2014) ISSN: 1698-6946 [Electronic] Spain
• PMID: 24608212 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Adaptor Proteins, Signal Transducing
• SH3BP2 protein, human

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Cherubism (diagnosis, genetics)
• Child
• Child, Preschool
• Female
• Humans
• Male
• Mutation
• Pedigree
• Phenotype
• Turkey