Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34

Koillinen, Hannele; Wong, Fung Ki; Rautio, Jorma; Ollikainen, Vesa; Karsten, Agneta; Larson, Ola; Teh, Bin Tean; Huggare, Jan; Lahermo, Päivi; Larsson, Catharina; Kere, Juha

doi:10.1038/sj.ejhg.5200713

Cited by 60 publications

(52 citation statements)

References 14 publications

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“…Linkage to the 1p34 locus was excluded in one of these kindreds, namely VWS-17. 3 Finally, supporting our negative findings in the Finnish population, as compared to the other populations tested, is the fact that Finnish VWS kindreds do present phenotypic differences such as a higher frequency of CP than CL or CL/P. 17 The present study reveals IRF6 gene mutation in 59% (10/17) of the kindreds, which is in accordance with the original investigation by Kondo et al, 2 reporting mutations in 55% (59/107) of the screened kindreds.…”

Section: Discussionmentioning

confidence: 99%

“…A second VWS locus has been assigned to 1p34 by linkage in a large Finnish kindred. 3 The IRF6 gene is 19 kb in size and includes 10 exons, out of which exons 3 -9 are coding for a 467-amino-acid (aa) transcription factor. Until today, IRF6 mutations have been reported in a total of 79 kindreds (65 VWS and 14 PPS) in populations of various origin such as Japanese, Korean, Thai, European and Turkish.…”

Section: Introductionmentioning

confidence: 99%

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Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome

et al. 2005

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The interferon regulatory factor 6 gene (IRF6) has been identified as the major Van der Woude (VWS) syndrome and popliteal pterygium (PPS) syndrome gene with mutations in the majority of the kindreds. We have studied altogether 17 kindreds from Sweden, Finland, Norway, Thailand and Singapore, and report here 10 mutations, six of them previously unseen. In two kindreds, we could document de novo mutations, both of them changing a codon for a glutamine residue to a stop. No mutation could be detected in the four VWS kindreds from Finland, suggesting a founder effect for a mutation in an atypical noncoding position. Our findings demonstrate that several distinct mutations occur in the Swedish population, and confirm the general notion of a broad spectrum of IRF6 mutations underlying the VWS/PPS phenotypes.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome

et al. 2005

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“…Three chromosomal regions have been reported to be linked to VWS: 1p34, 1q32-41, and 17p11.2-11.1 (12)(13)(14). We used microsatellite markers specific for 1q32-41 because specific mutations in this region had been identified in many VWS families.…”

Section: Discussionmentioning

confidence: 99%

Identification of IRF6 gene variants in three families with Van der Woude syndrome

Tan¹,

Lim²,

Yap³

et al. 2008

Int J Mol Med

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Abstract.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 primary locus. We screened for mutations in this gene in three families in our population. There was a recurrent nonsense mutation within exon 9 of the gene for a Malay family consisting of five affected members with different presentations. We also found a co-segregating rare polymorphism which would result in a non-synonymous change 23 bases downstream of the nonsense mutation. This polymorphism was present in <1% of the Malay subjects screened, but was not found among the Chinese and Indians in our population. For another family, a 396C¡T mutation (R45W in the DNA-binding domain) was found in the proband, although the possibility of a genetic defect elsewhere could not be excluded because his mother and twin sister (both unaffected) also had this variant. In the third case with complete absence of family history, a de novo deletion spanning the whole IRF6 gene was detected in the child with VWS. This case of haploinsufficiency caused disruption of orofacial development but not other organ systems as the child has no other medical or developmental abnormalities despite the deletion of at least five other genes.

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“…Demarquay-van der Woude (DVWS) and Popliteal Pterygium (PPS) syndromes are uncommon syndromes resulting from the mutations of genes mapped to the chromosome 1q32-q41 or 1q34 [6][7][8][9]. The genetic origin is traced to IRF6-gene which plays a predominant role in embryological facial development and as such these two syndromes are grouped under the description of IRF6-Related Disorders [13].…”

Section: Discussionmentioning

confidence: 99%

“…Most reported cases of DVWS have been linked to the chromosome 1q32-q41 (DVWS 1), however, a second locus (DVWS 2) has been mapped to the chromosome 1p34 [6][7][8][9]. Kondo et al have demonstrated that mutations in the gene encoding of the transcription factor interferon regulatory factor 6 (IRF6) cause DVWS.…”

Section: Introductionmentioning

confidence: 99%

Interlink of Two Syndromes - Demarquay-van der Woude and Popliteal Pterygium in One Family Group

Htun¹,

Bütow²,

Engelbrecht³

et al. 2016

J Interdiscipl Med Dent Sci

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Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34

Cited by 60 publications

References 14 publications

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome

Identification of IRF6 gene variants in three families with Van der Woude syndrome

Interlink of Two Syndromes - Demarquay-van der Woude and Popliteal Pterygium in One Family Group

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