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

Pérez-Sayáns M, Barros-Angueira F, Suárez-Peñaranda JÉ, García-García A - Head Face Med (2013)

Bottom Line: 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.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.

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ABSTRACT

Unlabelled: 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.

Keywords: Cherubism; SH3BP2; Expressivity.

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Panoramic radiography of the sister, non-affected.
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Figure 3: Panoramic radiography of the sister, non-affected.

Mentions: Patient 1 has two siblings, a man and a woman, neither of them is affected by the disease. The sister (Figure 3) has two children. Her firstborn (Patient 2) is 8 years old. He visited the Maxillofacial Surgery Unit due to the delay of the eruption of permanent incisors without suspecting any relation to his uncle’s pathology. Upon radiological examination, we observed the lack of eruption of permanent upper teeth, germination of lower central incisors, follicular cyst inclusion in piece 43, horizontal ectopic inclusion of tooth 32, supernumerary jaw, and odontogenic cysts in posterior mandibular regions and right mandibular area (Figure 4). We immediately suspected familial cherubism. Furthermore, Patient 2 referred nonspecific headaches that disappeared with nonsteroidal anti-inflammatory drugs, so we evaluated a possible ocular involvement, which has not been confirmed yet. According to the Raposo-Amaral classification, it would be grade III, class 5. Currently he is eating enteral nutrition, O-LAC (Mead Johnson).


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

Pérez-Sayáns M, Barros-Angueira F, Suárez-Peñaranda JÉ, García-García A - Head Face Med (2013)

Panoramic radiography of the sister, non-affected.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3842775&req=5

Figure 3: Panoramic radiography of the sister, non-affected.
Mentions: Patient 1 has two siblings, a man and a woman, neither of them is affected by the disease. The sister (Figure 3) has two children. Her firstborn (Patient 2) is 8 years old. He visited the Maxillofacial Surgery Unit due to the delay of the eruption of permanent incisors without suspecting any relation to his uncle’s pathology. Upon radiological examination, we observed the lack of eruption of permanent upper teeth, germination of lower central incisors, follicular cyst inclusion in piece 43, horizontal ectopic inclusion of tooth 32, supernumerary jaw, and odontogenic cysts in posterior mandibular regions and right mandibular area (Figure 4). We immediately suspected familial cherubism. Furthermore, Patient 2 referred nonspecific headaches that disappeared with nonsteroidal anti-inflammatory drugs, so we evaluated a possible ocular involvement, which has not been confirmed yet. According to the Raposo-Amaral classification, it would be grade III, class 5. Currently he is eating enteral nutrition, O-LAC (Mead Johnson).

Bottom Line: 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.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.

View Article: PubMed Central - HTML - PubMed

ABSTRACT

Unlabelled: 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.

Keywords: Cherubism; SH3BP2; Expressivity.

Show MeSH
Related in: MedlinePlus