A Chinese girl with cleidocranial dysplasia (CCD) caused by the recurrent R190W mutation in RUNX 2 / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 759-761, 2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-314406
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>A Chinese case of CCD was confirmed and the disease-causing mutation was linked to a recurrent point mutation in RUNX 2.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Displasia Cleidocraniana
/
Subunidade alfa 1 de Fator de Ligação ao Core
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2004
Tipo de documento:
Artigo
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