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

doi:10.7518/hxkq.2018.06.008

West China Journal of Stomatology ›› 2018, Vol. 36 ›› Issue (6): 623-627.doi: 10.7518/hxkq.2018.06.008

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

Xinya Du¹,Xiaoyu Li¹,Bin Wu¹,Chun Xie¹,Weidong Tian^2,³()

^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

Received:2018-01-27 Revised:2018-09-27 Online:2018-12-01 Published:2018-12-12
Contact: Weidong Tian E-mail:drtwd@sina.com
Supported by:
Shenzhen Science and Technology Commission Basic Research Project(JCYJ20170307141759582)

Abstract

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.Conclusion VWS in a Chinesepopulation 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: Van der Woude syndrome, clinical phenotype, cleft lip and/or palate, interferon regulatory factor 6, genetic characteristic

CLC Number:

Q786

Xinya Du,Xiaoyu Li,Bin Wu,Chun Xie,Weidong Tian. Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation[J]. West China Journal of Stomatology, 2018, 36(6): 623-627.

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References 9

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研究样本量	表型	唇裂伴或不伴腭裂	单纯腭裂	仅有裂	下唇瘘	仅有下唇瘘	牙畸形
本研究（n=37）	表型数	18	9	3	34	10	3
	非表型数	19	28	34	3	27	34
	占比/%	48.6	24.3	8.1	91.9	27.0	8.1
全球数据（n=632）	表型数	267	159	141	445	158	70
	非表型数	365	473	491	187	474	562
	占比/%	42.2	25.2	22.3	70.4	25	11.1
	P值	0.444	0.909	0.041	0.005	0.782	0.574

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

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