RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia
Genet. mol. biol
;
34(2): 201-204, 2011. graf
Artigo
em Inglês
| LILACS
| ID: lil-587753
ABSTRACT
Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases with typical CCD. One of the patients was a familial case and the others were sporadic cases. Sequencing identified four mutations. Three were caused by single nucleotide substitutions, which created a nonsense (p.R391X), two were missense mutations (p.R190W, p.R225Q), and the forth was a novel mutation (c.1119delC), a one-base deletion. Real time quantitative PCR adapted to determine copy numbers of the promoter, all exons and the 3'UTR region of the RUNX2 gene detected the deletion of a single allele in a sporadic case. The results extend the spectrum of RUNX2 mutations in CCD patients and indicate that complete deletions of the RUNX2 gene should be considered in those CCD patients lacking a point mutation detected by direct sequencing.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Deleção Cromossômica
/
Displasia Cleidocraniana
/
Subunidade alfa 1 de Fator de Ligação ao Core
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Genet. mol. biol
Assunto da revista:
Genética
Ano de publicação:
2011
Tipo de documento:
Artigo
País de afiliação:
China
/
Taiwan
Instituição/País de afiliação:
China Medical University Hospital/TW
/
China Medical University/TW
/
MacKay Memorial Hospital/TW
/
University Hospital/TW
Similares
MEDLINE
...
LILACS
LIS