Association between genotype and phenotype of virulence gene in Van der Woude syndrome families

Li,Shouxia; Zhang,Xueqiang; Chen,Dingli; Zhao,Wei; Zhang,Xiaofang; Jiao,Jianjun; Guo,Lili; Yin,Lei; Song,Xuedong; Liang,Chun; Sun,Caixia

doi:10.3892/mmr.2017.7978

Association between genotype and phenotype of virulence gene in Van der Woude syndrome families

Authors:
- Shouxia Li
- Xueqiang Zhang
- Dingli Chen
- Wei Zhao
- Xiaofang Zhang
- Jianjun Jiao
- Lili Guo
- Lei Yin
- Xuedong Song
- Chun Liang
- Caixia Sun
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Affiliations: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056001, P.R. China, First School of Clinical Medicine, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China
Published online on: November 6, 2017 https://doi.org/10.3892/mmr.2017.7978
Pages: 1241-1246

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Abstract

Members from two Van der Woude syndrome (VWS) families were screened to determine the prevalence of interferon regulatory factor 6 (IRF6) as a disease‑causing gene and to analyze the interrelationships between patient genotype and phenotype. The peripheral blood of 24 members from two VWS families and 200 control samples were collected. The family members were interviewed for medical histories and other clinical abnormalities using questionnaires. Polymerase chain reaction was directly performed on the peripheral blood to screen for the coding region of the IRF6 gene. Of the 24 family members, a total of 6 patients had mutations of IRF6 gene. c.1234C>T (p.R412X) heterozygous mutation was detected in 3 members of family 1. In families 2 and 3, members carried the c.1210G>A (p.E404K) heterozygous mutations. The other members of the families, were wild type (wt/wt) for IRF6. Genetic testing demonstrated that the disease mutations c.1234C>T and c.1210G>A co‑segregated with the two families' pathogenic mutations. The existence of genetic heterogeneity and the complexity of the clinical phenotype was demonstrated in Chinese VWS patients.

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