OBJECTIVECleidocranial dysplasia (CCD) is a rare skeletal disease with autosomal dominant inheritance associated with mutation in RUNX 2. The authors report a Chinese girl with CCD in whom the mutation in RUNX 2 was identified.

METHODSClinical diagnosis was based on physical examination, radiological findings, and biochemical tests. For mutation detection, genomic DNA was extracted from peripheral blood using standard method. All 7 coding exons of RUNX 2 and their flanking intronic sequences were amplified by polymerase chain reaction (PCR), and the PCR products were then subjected to automatic DNA sequencing.

RESULTSThe affected girl showed typical clinical manifestations of CCD, including patent fontanelles, absent clavicles, short stature and dental anomalies. Direct sequencing of PCR-amplified fragments revealed a recurrent missense mutation, R190W (568 C > T), in RUNX 2. The mutation was further confirmed by Hae III restriction analysis.

CONCLUSIONA Chinese case of CCD was confirmed and the disease-causing mutation was linked to a recurrent point mutation in RUNX 2.

Cleidocranial Dysplasia ; genetics ; Core Binding Factor Alpha 1 Subunit ; genetics ; Female ; Humans ; Mutation

Objective:To investigate the relationship between the expression of microRNA-148b(miR-148b)in human hepato-cellular carcinoma (HCC)and the prognosis of HCC.Methods:The specimens of HCC tissue and para-carcinoma tissue ac-quired by surgical resection during 2007 and 2010 were collected from frozen tissue specimen library of Shuguang Hospital Af-filiated to Shanghai University of Traditional Chinese Medicine.The expression of miR-148b in tissue specimen was detected by real-time quantitative polymerase chain reaction (RT-qPCR).The clinical significance of expression change of miR-148b was analyzed by considering the clinical pathological indicators and survival data.Results:The expression level of miR-148b in HCC was significantly lower than that in para-tumor tissues(P <0.01).Low expression of miR-148b was associated with HCC ma-lignant clinical pathological indicators such as vascular invasion and TNM stage.Kaplan-Meier survival curve analysis showed that the patients with low expression of miR-148b had poor overall survival rate.Conclusions:The expression of miR-148b de-creases in human HCC tissue.And it is associated with the poor clinical prognosis.