Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

• Published in: Molecular vision Vol. 17; pp. 436 - 442
• Main Authors: Hu, Shanshan, Guo, Junjing, Wang, Binbin, Wang, Jing, Zhou, Zhou, Zhou, Guangkai, Ding, Xuchen, Ma, Xu, Qi, Yanhua
• Format: Journal Article
• Language: English
• Published: United States Molecular Vision 09.02.2011
• Subjects: Adult; Amino acids; Amino Acids - chemistry; Blepharophimosis - ethnology; Blepharophimosis - genetics; Child; Child, Preschool; China; Codon; Codons; copy number; DNA Mutational Analysis; Ethnic groups; Exons; Female; Forkhead Box Protein L2; Forkhead protein; Forkhead Transcription Factors - genetics; FOXL2 gene; Frameshift Mutation; Gene Deletion; Genetic analysis; genomics; Humans; Infant; Male; Menopause, Premature - ethnology; Menopause, Premature - genetics; Models, Genetic; Mutation; Peripheral blood; Polymerase chain reaction; Reverse Transcriptase Polymerase Chain Reaction; Sequence Analysis, DNA; Skin Abnormalities - ethnology; Skin Abnormalities - genetics; Syndrome; Vision
• ISSN: 1090-0535; 1090-0535

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). 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. 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. 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.