Tuna Elif Bahar, Shimizu Takehiko, Seymen Figen, Yildirim Mine, Gencay Koray, Maeda Takahide
Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
Pediatr Dent. 2012 May-Jun;34(3):198-202.
Cherubism is a rare autosomal dominant syndrome characterized by abnormal bone tissue in the lower part of the face. Mutations in the gene coding for SH3BP2 have been identified in about 80% of people with cherubism. The aim of this study was to determine whether a mutation in the SH3BP2 gene was the molecular basis of cherubism in two unrelated families.
Two cases of the aggressive form of Cherubism were described in two Turkish families with extensive bilateral swelling in the mandible, typical pathological features and familial history. Genomic DNA was extracted from six affected and three unaffected individuals from two families, and mutations in the SH3BP2 were detected by PCR, and direct DNA sequencing was carried out.
In the first family, a missense mutation Arg415Gln was found in exon 9 of the SH3BP2 in all affected individuals. The unaffected individuals did not have this mutation. In the second family, another missense mutation Pro418Thr was identified in exon 9 of the SH3BP2 in the patient and his mother with cherubism.
We detected the point mutations in the SH3BP2 gene in the patients with multiple affected individuals. Genotype-phenotype association studies in individuals with cherubism are necessary to provide important knowledge about molecular mechanisms of the disease.
cherubism是一种罕见的常染色体显性综合征，其特征为面部下部的骨组织异常。约80%的cherubism患者已被确定存在编码SH3BP2的基因突变。本研究的目的是确定SH3BP2基因的突变是否为两个无血缘关系家族中cherubism的分子基础。
描述了两个土耳其家族中的两例侵袭性cherubism病例，这些患者双侧下颌骨广泛肿胀，具有典型的病理特征和家族史。从两个家族的6名患病个体和3名未患病个体中提取基因组DNA，通过聚合酶链反应（PCR）检测SH3BP2的突变，并进行直接DNA测序。
在第一个家族中，所有患病个体的SH3BP2第9外显子中均发现一个错义突变Arg415Gln。未患病个体没有这种突变。在第二个家族中，在患有cherubism的患者及其母亲的SH3BP2第9外显子中鉴定出另一个错义突变Pro418Thr。
我们在多个患病个体的患者中检测到了SH3BP2基因的点突变。对cherubism患者进行基因型-表型关联研究对于提供有关该疾病分子机制的重要知识是必要的。
