Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation.

Xin-ya DU; Xiao-yu LI; Bin WU; Chun Xie; Wei-dong Tian

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Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation.

Author: Xin-Ya DU ¹ ; Xiao-Yu LI ¹ ; Bin WU ¹ ; Chun XIE ¹ ; Wei-Dong TIAN ^{2
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Author Information

1. Dept. of Stomotology, The People's Hospital of Longhua, Shenzhen 518000, China.
2. State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Trauma and Plastic Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China
3. National Engineering Laboratory for Oral Regenerative Medicine, Sichuan University, Chengdu 610041, China.
Publication Type:Journal Article
Keywords: Van der Woude syndrome; cleft lip and/or palate; clinical phenotype; genetic characteristic; interferon regulatory factor 6
MeSH: Abnormalities, Multiple; genetics; Cleft Lip; genetics; Cleft Palate; genetics; Cysts; genetics; Humans; Interferon Regulatory Factors; genetics; Lip; abnormalities; Mutation; Pedigree; Syndrome
From: West China Journal of Stomatology 2018;36(6):623-627
CountryChina
Language:Chinese
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.