Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
| Autor: | Shanshan, Hu, Junjing, Guo, Binbin, Wang, Jing, Wang, Zhou, Zhou, Guangkai, Zhou, Xuchen, Ding, Xu, Ma, Yanhua, Qi |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Forkhead Box Protein L2 Male China Models Genetic Reverse Transcriptase Polymerase Chain Reaction DNA Mutational Analysis Menopause Premature Infant Forkhead Transcription Factors Sequence Analysis DNA Syndrome Blepharophimosis Child Preschool Mutation Skin Abnormalities Humans Female Amino Acids Child Codon Frameshift Mutation Gene Deletion Research Article |
| Zdroj: | Molecular Vision |
| ISSN: | 1090-0535 |
| Popis: | Purpose The purpose of this study was to identify the mutation(s) or deletion(s) of the forkhead box protein L2 (FOXL2) gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Methods Genomic DNA extracted from peripheral blood was collected from two Chinese families and from one sporadic case. PCR direct sequencing and quantitative real-time PCR-based copy number screening for the whole exon of FOXL2 were performed. Results Direct sequencing revealed an indel mutation c.50C→TA in the sporadic case which resulted in a frameshift generating 78 novel amino acids and terminating prematurely at codon 95. Deletions in the FOXL2 gene were confirmed by quantitative real-time PCR (q-real-time PCR) in two families in which intragenic mutations were excluded by direct sequencing. These changes containing deletions and a de novo mutation were not detected either in the non-carrier relatives or in 100 normal controls. Conclusions This study identified two deletions and a de novo mutation in the FOXL2 gene in Chinese BPES patients. This is the first study to report FOXL2 gene deletions detected by q-real-time PCR in this ethnic group. This technique enriches the diagnostic methods of molecular genetics in BPES patients. The de novo mutation expands the mutation spectrum of FOXL2. |
| Databáze: | OpenAIRE |
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