Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: Review of the literature

被引：18

作者：

Salahshourifar, Iman ^{[1
,2
]}

Sulaiman, Wan Azman Wan ^{[2
]}

Halim, Ahmad Sukari ^{[2
]}

Zilfalil, Bin Alwi ^{[1
]}

机构：

[1] Univ Sains Malaysia, Ctr Human Genome, Kubang Kerian 16150, Kelantan, Malaysia

[2] Univ Sains Malaysia, Reconstruct Sci Unit, Kubang Kerian 16150, Kelantan, Malaysia

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2012年 / 55卷 / 6-7期

关键词：

Interferon regulatory factor 6 (IRF6); Cleft lip only; Non-syndromic oral clefts; Mixed clefting; Van der Woude syndrome; OROFACIAL CLEFTS; LIP; PALATE; GENE; ASSOCIATION; WOUDE; RISK; VAN; DISRUPTION; PREDICTION;

D O I：

10.1016/j.ejmg.2012.02.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Non-syndromic oral clefts share the main clinical features of Van der Woude Syndrome (VWS), with the exception of the lower lip pit. Thus, about 15% of VWS cases are indistinguishable from cases with non-syndromic oral clefts. IRF6 mutations are the major cause of VWS; however, variants in this gene show strong association with non-syndromic oral clefts, with a higher increased risk among cases with cleft lip only (CLO). A total of 39 individuals, including 16 patients with CLO and 23 patients with a family history of cleft, were examined for IRF6 mutations in the present study. Seven variants, including five known (c.-75-4 A>; G, c.-73T>; C, c.459G>; T 5, c.820G>; A, and c. 1060 + 37C>; T) and two novel (c.-75-23G>; C and c.1380G>; T), were found. Both novel variants were inherited from non-affected parents and we did not find also in the 120 control chromosomes. In silico analysis revealed that both c.1380G>; T and c.-75-23G>; C variants may disrupts a putative exonic splicing enhancer and intronic splicing binding site for SC35, respectively. Taken together, the presence of deleterious IRF6 variants in patients with non-syndromic oral clefts could be most likely an evidence for VWS. While, IRF6 variants could, at best, contribute to clefting as part of a complex inheritance pattern, with both additional genes and environmental factors having a role. (c) 2012 Elsevier Masson SAS. All rights reserved.

引用

页码：389 / 393

页数：5

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