Genetic analysis of the FOXL2 gene on pedigree with blepharophimosis-ptosis-epicanthus inversus syndrome
10.3760/cma.j.cn114453-20210719-00311
- VernacularTitle:四个小睑裂综合征家系的FOXL2基因遗传分析
- Author:
Mingmin GAO
1
;
Zongming SONG
;
Junping HUANG
;
Feng XING
Author Information
1. 河南省人民医院（郑州大学人民医院） 河南省立眼科医院眼整形科 450003
- Keywords:
Blepharophimosis;
Genetic research;
Blepharophimosis-ptosis-epicanthus inversus syndrome;
FOXL2 gene;
Sanger sequencing;
Multiplex ligation-dependent probe
- From:
Chinese Journal of Plastic Surgery
2021;37(12):1390-1396
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To screen for the mutation types of the FOXL2 in 4 families with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlations.Methods:To retrospectively analyze the result of FOXL2 gene detection by fluorescence quantification PCR, Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) in probands and families of BPES from January 2018 to January 2021, obtain mutation sites of pathogenic genes.Results:4 BPES families (8 cases) including 4 males and 4 females, with age ranged form 4 to 52 years (mean 24). The proband of family 1 has fragment deletion of Chr3∶138, 944, 224-138, 947, 137 region of FOXL2 gene. Proband of family 2 has heterozygosity deletion upstream of the 5’end of FOXL2 gene. There are missense mutations of c. 241 T>C(p.Y81 H)in proband and affected mother of family 3. There are c. 672_701dup(p.A224_A234dup) in-frame duplication mutations in proband and affected mother of family 4.Conclusions:Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The fragment deletion of Chr3∶138, 944, 224-138, 947, 137 region of FOXL2 gene and heterozygosity deletion upstream of the 5’end of FOXL2 gene are all new mutations that have not been reported. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.
