A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts

Wu-Chou, Yah-Huei; Lo, Lun-Jou; Chen, Kuo-Ting Philip; Chang, Chun-Shin Frank; Chen, Yu-Ray

doi:10.1186/1471-2350-14-37

Cited by 16 publications

(16 citation statements)

References 33 publications

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“…All three affected patients were heterozygous for c.265A>G in exon 4 of IRF6 , predicting p.Lys89Glu. This mutation has been described before in patients with PPS [Kondo et al, ] as well as in a patient with VWS [Wu‐Chou et al, ]. It is located in close vicinity to the PPS mutational hotspot p.Arg84Cys.…”

Section: Discussionmentioning

confidence: 59%

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6

Busche

Hehr

Sieg

et al. 2016

American J of Med Genetics Pt A

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Patients with Van der Woude syndrome typically present with cleft lip, cleft lip and palate, or with cleft palate only. In contrast to non-syndromic cleft lip and/or palate, Van der Woude syndrome typically is characterized by bilateral, paramedian lower-lip pits. Popliteal pterygium syndrome shares features with Van der Woude syndrome, but, in addition, is characterized by a popliteal pterygium, genital anomalies, cutaneous syndactyly of the fingers and the toes, and a characteristic pyramidal fold of skin overlying the nail of the hallux. In some patients oral synechiae or eyelid synechiae are present. Van der Woude Syndrome and Popliteal pterygium syndrome are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6. We present a three generation family with tremendous intrafamilial phenotypic variability. The newborn index patient had a diagnosis of Popliteal pterygium syndrome. The mother presented with a classic Van der Woude Syndrome, while the maternal grandfather had Van der Woude Syndrome as well as minor signs of Popliteal pterygium syndrome. In all three affecteds the known pathogenic mutation c.265A>G, p.Lys89Glu in IRF6 was identified. While inter- as well as intra-familial variability has been described in IRF6-related disorders, the occurrence of a typical Van der Woude Syndrome without any other anomalies as well as a diagnosis of Popliteal pterygium syndrome in the same family is rare. © 2016 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 59%

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6

Busche

Hehr

Sieg

et al. 2016

American J of Med Genetics Pt A

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“…A number of studies have screened the IRF6 gene in non-syndromic OFC cases in an effort to determine if clinical mutation screening should become routine or if unrecognized IRF6 mutations underlie the well-known association between common variants in IRF6 and non-syndromic OFCs (summarized in Table 1) (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22). In this study, we report the results of our own IRF6 mutation screen of 1521 case-parent trios with apparently non-syndromic OFCs and compare these findings with the existing literature.…”

mentioning

confidence: 99%

IRF6 mutation screening in non‐syndromic orofacial clefting: analysis of 1521 families

Leslie

Koboldt²,

Kang³

et al. 2015

Clinical Genetics

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Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish VWS cases from individuals with nonsyndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with nonsyndromic OFCs. Screening for IRF6 mutations in apparently nonsyndromic cases has been performed in several modestly sized cohorts with mixed results. In the current study we screened 1521 trios with presumed nonsyndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and nonsyndromic OFCs. We combined our results with other similar studies (totaling 2,472 families) and conclude that causal IRF6 mutations are found in 0.24%-0.44% of apparently nonsyndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families with mixed types of OFCs and/or autosomal dominant transmission.

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“…The Irf6 gene is strongly associated with the risk of developing oral-facial clefts (Wu-Chou et al, 2013). IRF6 is a key factor in oral and maxillofacial development, regulating facial fusion via modulation of epithelial cell proliferation and differentiation.…”

Section: Introductionmentioning

confidence: 99%

IRF6, RYK, and PAX9 Expression in Facial Tissue of Children with Cleft Palate

Smane

Pilmane

2015

Int. J. Morphol.

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A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts

Cited by 16 publications

References 33 publications

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6

IRF6 mutation screening in non‐syndromic orofacial clefting: analysis of 1521 families

IRF6, RYK, and PAX9 Expression in Facial Tissue of Children with Cleft Palate

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