Genetic analysis of a family of Van der Woude syndrome / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 378-383, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-819038
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Anormalidades Congênitas
/
Anormalidades Múltiplas
/
Diagnóstico por Imagem
/
China
/
Ultrassonografia
/
Fenda Labial
/
Fissura Palatina
/
Cistos
/
Fatores Reguladores de Interferon
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Zhejiang University. Medical sciences
Ano de publicação:
2019
Tipo de documento:
Artigo
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