Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation / 华西口腔医学杂志
West China Journal of Stomatology
; (6): 623-627, 2018.
Article
in Zh
| WPRIM
| ID: wpr-772447
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#This study aimed to investigate the clinical phenotype and genetic characteristics of Chinese families with Van der Woude syndrome (VWS).@*METHODS@#Clinical manifestations between 14 families and within each family were recorded. Possible inheritance modes and pathogenic genes were analyzed. Phenotypic distribution and gene frequencies were calculated.@*RESULTS@#Of the pedigrees investigated, an autosomal dominant inheritance pattern was suggested. All patients had typical symptoms. The pathogenic gene was interferon regulatory factor 6 (IRF6). Phenotypic distribution frequencies were as follows: lip pits (91.9%), cleft lip and/or palate (73.0%), and hyperdontia (8.1%). There were significant differences in clinical phenotypes among individuals of different families and individuals of the same family.@*CONCLUSIONS@#VWS in a Chinese population was dominantly inherited with high penetrance and variable expressivity. The pathogenic gene was IRF6. VWS in a Chinese population was genotyped as VWS1.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Pedigree
/
Syndrome
/
Congenital Abnormalities
/
Abnormalities, Multiple
/
Cleft Lip
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Cleft Palate
/
Cysts
/
Interferon Regulatory Factors
/
Genetics
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Lip
Limits:
Humans
Language:
Zh
Journal:
West China Journal of Stomatology
Year:
2018
Document type:
Article