RESUMO
<p><b>OBJECTIVE</b>We have studied 4 generations 12 patients in a family which has blepharophimosis-ptosis-epicanthus-inversus syndrome (BPES) for the gene, FOXL2, the group also have 12 normal members in this family and other 80 normal individuals for contrast.</p><p><b>METHODS</b>The FOXL2 gene was amplified by polymerase chain reaction and then analyzed by direct genomic sequencing.</p><p><b>RESULTS</b>A 892C > T at nucleotides in FOXL2 was found in the twelve affected patients. No mutations was found in any of the health members in the family.</p><p><b>CONCLUSIONS</b>FOXL2 may be a important pathogenesis for the disease in this Chinese family.</p>
Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Povo Asiático , Genética , Blefarofimose , Etnologia , Genética , Proteína Forkhead Box L2 , Fatores de Transcrição Forkhead , Genética , Genótipo , Mutação , Linhagem , Fenótipo , Análise de Sequência de DNA , SíndromeRESUMO
0.05).The survival area and capillary density were more favorable in the EPCs-injection sites than the controls(P
RESUMO
<p><b>OBJECTIVE</b>To screen mutations in the forkhead transcriptional factor 2 gene (FOXL2) in six Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome(BPES).</p><p><b>METHODS</b>PCR amplification and direct sequencing of the FOXL2 coding region in genomic DNA were performed in affected patients and 80 healthy controls. BLAST analysis of the sequence was made on Internet.</p><p><b>RESULTS</b>A novel 951-953(delC) was found in the two affected patients of a Chinese family with BPES. No mutations were found in the healthy controls. The 951-953(delC) may cause a frameshift mutation after codon 238 that exists downstream of the forkhead domain, resulting in the production of truncated proteins.</p><p><b>CONCLUSION</b>These findings indicated that the 951-953(delC) deletion mutation in the two patients resulted in truncated proteins and hence led to their BPES. To the authors' knowledge, the 951-953(delC) in FOXL2 has not been previously reported.</p>