Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case.

BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD. METHODS: We made genetic testing on this sporadic Chinese case and identified a novel RUNX2 frameshift mutation: c.1111dupT. In situ immunofluorescence microscopy and osteocalcin promoter luciferase assay were performed to compare the functions of the RUNX2 mutation with those of wild-type RUNX2. RESULTS: RUNX2 mutation was observed in the perinuclear region, cytoplasm, and nuclei. In contrast, wild-type RUNX2 was confined in the nuclei, which indicated that the subcellular compartmentalization of RUNX2 mutation was partially perturbed. The transactivation function on osteocalcin promoter of the RUNX2 mutation was obviously abrogated. CONCLUSIONS: We identified a sporadic CCD patient carrying a novel insertion/frameshift mutation of RUNX2. This finding expanded our understanding of CCD-related phenotypes.

[Chin morphology in subjects with different vertical skeletal craniofacial pattern].

OBJECTIVE: To evaluate whether there is difference with regard to chin morphology in subjects with different vertical skeletal craniofacial pattern and the relationship among them. METHODS: The sample was composed of 80 adolescents who denied orthodontic treatment history and presented Class I skeletal pattern, aged (12.69+/-0.70) years. They were divided into three groups according to mandibular plane angle: High angle group (21 cases, FH/MP> or = 32 degrees), average angle group(43 cases, 22 degrees

[Treatment of OSAS with modified twin-block advancement appliances].

OBJECTIVE: To introduce a new modified twin-block advancement appliance and investigate the effects on respiratory variables in patients with OSAS. METHODS: 29 patients with OSAS participated in the study and were fitted with modified twin-block appliances to hold the mandible in an anterior and inferior position. Polysomnography was performed with and without appliance insertion. And questionnaires were used for registration of patients subjective symptoms. Pair-t analysis was used to evaluate the effects of appliances in patients with OSAS. RESULTS: 26 patients responded to the appliance therapy. Apnea-hypopnea index, apnea index and hypopnea index were reduced significantly (P < 0.01). Lowest arterial oxygen saturation improved significantly (P < 0.01). Discomfort with mandibular advancement disappeared within one week. CONCLUSIONS: Modified twin-block advancement appliance is a conservative, successful treatment alternative that could benefit patients suffered from OSAS.