Abstract
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.
Highlights
Cherubism, listed by OMIM (Online Mendelian Inheritance in Man) as OMIM 118400, is a rare genetic disease of dominant autosomal inheritance with variable penetrance and expressivity, characterized by an abnormal growth of the bones of the face, mainly the jaw [1]
Cherubism is classified within the group of benign osteofibrous lesions, differentiating from osteo-cementum lesions and fibrous dysplasia because of its unique clinical and radiological features [1]
It has been observed that the disease is due to a mutation in gene SH3BP2, which is located at chromosome 4pl6.3, which encodes a protein formed by 561 amino acids [8]
Summary
Cherubism, listed by OMIM (Online Mendelian Inheritance in Man) as OMIM 118400, is a rare genetic disease of dominant autosomal inheritance with variable penetrance and expressivity, characterized by an abnormal growth of the bones of the face, mainly the jaw [1]. Prevalence is unknown, but is probably less than 1 in 10,000 [2]. It appears around age 4 with painless bilateral swelling of the jaws (which create a cherubim-like look) and stops progression in the late teens, with residual manifestations persisting in adult life [3]. Cherubism is classified within the group of benign osteofibrous lesions, differentiating from osteo-cementum lesions and fibrous dysplasia because of its unique clinical and radiological features [1].
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