[A Chinese girl with cleidocranial dysplasia (CCD) caused by the recurrent R190W mutation in RUNX 2].
OBJECTIVE
Cleidocranial 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.


METHODS
Clinical 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.


RESULTS
The 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.


CONCLUSIONS
A Chinese case of CCD was confirmed and the disease-causing mutation was linked to a recurrent point mutation in RUNX 2.
Qiu
Zheng-qing
ZQ
Department of Pediatrics, Peking Union Medical College Hospital, Beijing 100730, China.
Tang
Ai-lan
AL
Yu
Wei
W
Ao
Yang
Y
Wilson
H Y Lo
HY
Wei
Min
M
Zhang
Xue
X
D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation
D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human