Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome.
- VernacularTitle:五个睑裂狭小综合征家系FOXL2基因突变的研究
- Author:
Xiaowen YANG
1
;
Wen LI
;
Juan DU
;
Shimin YUAN
;
Wenbin HE
;
Qianjun ZHANG
;
Changgao ZHONG
;
Guangxiu LU
;
Yueqiu TAN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Blepharophimosis; diagnosis; genetics; China; Female; Forkhead Box Protein L2; Forkhead Transcription Factors; genetics; Genetic Association Studies; Humans; Male; Molecular Sequence Data; Pedigree; Skin Abnormalities; diagnosis; genetics; Urogenital Abnormalities; diagnosis; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2017;34(3):342-346
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation.
METHODSPeripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis.
RESULTSA heterozygous c.672_701dup30 mutation was found in the probands from the two familial cases, while three heterozygous mutations (two were novel), namely c.462_468del (p.Pro156Argfs*113), c.251T to A (p.Ile84Asn) and c.988_989insG (p.Ala330Glyfs*204) were detected in the three sporadic cases. Literature review and bioinformatic analysis indicated that all these mutations are pathogenic.
CONCLUSIONIdentification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.
