Genetic analysis of a family of Van der Woude syndrome.
- Author:
Yuqing XU
1
;
Yeqing QIAN
1
;
Weimiao YAO
1
;
Minyue DONG
1
Author Information
1. Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China.
- Publication Type:Case Reports
- MeSH:
Abnormalities, Multiple;
genetics;
China;
Cleft Lip;
complications;
diagnostic imaging;
etiology;
genetics;
Cleft Palate;
complications;
diagnostic imaging;
etiology;
genetics;
Cysts;
complications;
genetics;
Female;
Humans;
Interferon Regulatory Factors;
genetics;
Lip;
abnormalities;
Male;
Mutation;
Pedigree;
Ultrasonography
- From:
Journal of Zhejiang University. Medical sciences
2019;48(4):378-383
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze clinical and genetic features of a family affected with Van der Woude syndrome.
METHODS:The umbilical cord blood of the proband and the peripheral blood of the parents were used for the whole exon sequencing to find the candidate gene.Peripheral blood of 9 members of the family were collected for Sanger sequencing verification, bioinformatics analysis and genotype-phenotype correlation analysis.
RESULTS:The proband was diagnosed with cleft lip and palate by ultrasound. His father and grandmother had hollow lower lip and all other family members did not have the similar phenotype. A missense c.263A>G (p.N88S) mutation was found in exon 4 of gene in the proband, his father and his grandmother.The mutation was not found in other family members.
CONCLUSIONS:A missense c.263A>G (p.N88S) mutation in gene probably underlies the pathogenesis of Van der Woude syndrome in the family and the mutation has been firstly discovered in China.
