Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease

Head & Face Medicine

Abel García-García¹  José M Suárez-Peñaranda²  Francisco Barros-Angueira³  Mario Pérez-Sayáns¹ 

[1] Oral Medicine, Oral Surgery and Implantology Unit, Faculty of Medicine and Dentistry, Institute of Sanitary Research of Santiago, (IDIS), Entrerrios s/n, Santiago de Compostela, CP 15782, Spain;Department of Pathology and Forensic Sciences, University Hospital and School of Medicine of Santiago de Compostela, Santiago de Compostela, Spain;Molecular Medicine Unit-Galician Public Fundation for Genomic Medicine, University Hospital and School of Medicine of Santiago de Compostela, Santiago de Compostela, Spain

关键词: Expressivity;    SH3BP2;    Cherubism;   

Others  :  813655
DOI  :  10.1186/1746-160X-9-33

 received in 2013-08-21, accepted in 2013-10-31,  发布年份 2013

【 摘 要 】

Cherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Here we present two cases of familial cherubism, uncle and nephew, with variable clinical involvement (“Expressivity”), and one case of a woman (sister and mother, respectively), who transmitted cherubism without suffering the disease. In this article we have shown that, in familial cherubism cases, the mutation is inherited through an autosomal dominant transmission. Mutations affecting gene SH3BP2 cause variable clinical involvement (variable expressivity), involvement can be moderate, severe or may result merely in asymptomatic carriers. Since the possibility of transmission reaches 50% of chances, we believe that it is important to develop genetic counseling for both patients and carriers, in order to prevent or minimize new affected offspring.

【 授权许可】

   
2013 Pérez-Sayáns et al.; licensee BioMed Central Ltd.

【 图 表 】

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