Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.
نویسندگان
چکیده
The role of interferon regulatory factor 6 (IRF6) gene mutations in causing Van der Woude syndrome (VWS) and poplyteal pterygium syndrome has been described in different populations worldwide. The former is one of the major syndromes of cleft lip and/or cleft palate (CL/P) with the distinct phenotype of presence of pits with or without sinuses on the lower lip. We identified seven probands with VWS from Punjab province of Pakistan and recognized two previously unreported lip pit phenotypes. The mutational analysis of IRF6 in this cohort revealed four novel and two previously reported mutations. The newly identified mutations include three frameshifts (c.635delG; c.21_33del13; c.627delC) and one transition mutation (c.2T>C) affecting the first codon of IRF6. Together with a past epidemiological study on VWS in Pakistan, the frequency of this syndrome among CL/P individuals from Punjab was calculated to be 1.17%.
منابع مشابه
Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.
Van der Woude Syndrome (VWS) is an autosomal craniofacial disorder characterized by lower lip pits and cleft lip and/or palate. Mutations in the interferon regulatory factor 6 (IRF6) gene have been identified in patients with VWS. To identify novel IRF6 mutations in patients affected by VWS, we screened 2 Brazilian families, sequencing the entire IRF6-coding region and flanking intronic boundar...
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Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, which accounts for approximately 2% of all cleft lip and palate cases. It is characterised by variable association of lower lip pits, cleft lip and cleft palate, and hypodontia. VWS arises as the result of mutations in the gene encoding interferon regulatory factor 6 (IRF6). The disorder is transmitted in an auto...
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Cleft lip and cleft palate (CLP) are common disorders that occur either as part of a syndrome, where structures other than the lip and palate are affected, or in the absence of other anomalies. Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, lip pits, skin-folds, syndactyly and oral adhesions w...
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Van der Woude syndrome is the most common cause of syndromic orofacial clefting. It is characterised by the presence of lip pits, cleft lip and/or cleft palate. It is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity. Several mutations in the interferon regulatory factor 6 (IRF6) gene have been found in VWS families, suggesting that this gene is the pri...
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Van der Woude syndrome (VWS) is usually underreported and frequently not diagnosed. The phenomenon that cleft lip and palate are regularly combined in the same pedigree makes it unique. A meticulous examination of a patient with lip pits may reveal a hidden form of a cleft, for example, submucous. This paper presents a case of VWS in a ten-year-old boy with characteristic orofacial features. Sp...
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ورودعنوان ژورنال:
- Clinical genetics
دوره 85 5 شماره
صفحات -
تاریخ انتشار 2014