[Genetic analysis of a family of Van der Woude syndrome].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 378-383, 2019 06 25.
Article
em Zh
| MEDLINE
| ID: mdl-31901040
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 IRF6 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 IRF6 gene probably underlies the pathogenesis of Van der Woude syndrome in the family and the mutation has been firstly discovered in China.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Fenda Labial
/
Fissura Palatina
/
Cistos
/
Fatores Reguladores de Interferon
/
Lábio
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Female
/
Humans
/
Male
País como assunto:
Asia
Idioma:
Zh
Ano de publicação:
2019
Tipo de documento:
Article