scholarly journals Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family

2014 ◽  
Vol 96 ◽  
Author(s):  
DINESH S. MANJEGOWDA ◽  
MANU PRASAD ◽  
AVINASH M. VEERAPPA ◽  
NALLUR B. RAMACHANDRA
Keyword(s):  
Copy Number ◽  
Cleft Lip ◽  
Copy Number Variations ◽  
Signalling Pathways ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Indian Family ◽  
South Indian ◽  
Cleft Lip Palate ◽  
Genome Copy Number

SummaryVan der Woude syndrome (VWS) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, cleft palate and other malformations. We performed a whole-genome copy number variations (CNVs) scan in an Indian family with members suffering from VWS using 2·6 million combined SNP and CNV markers. We found CNVs affecting IRF6, a known candidate gene for VWS, in all three cases, while none of the non-VWS members showed any CNVs in the IRF6 region. The duplications and deletions of the chromosomal critical region in 1q32–q41 confirm the involvement of CNVs in IRF6 in South Indian VWS patients. Molecular network analysis of these and other cleft lip/palate related module genes suggests that they are associated with cytokine-mediated signalling pathways and response to interferon-gamma mediated signalling pathways. This is a maiden study indicating the involvement of CNVs in IRF6 in causing VWS in the Indian population.

Relationship between Lower-Lip Fistulae and Cleft Lip and/or Palate in Van der Woude Syndrome

1997 ◽  
Vol 34 (3) ◽  
pp. 261-265 ◽  
Author(s):  
Mirian Aparecida Onofre ◽  
Heli Benedito Brosco ◽  
Rumio Taga
Keyword(s):  
Cleft Palate ◽  
Medical Records ◽  
Mixed Type ◽  
Cleft Lip ◽  
Population Sample ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Rehabilitation Hospital ◽  
Cleft Lip Palate ◽  
The Relationship

Objective This study was conducted to evaluate the relationship between fistulae of the lower lip and cleft lip and/or palate in patients with Van der Woude syndrome. Methods The medical records of 11,000 patients with cleft lip and/or palate registered at the Cleft Lip-Palate Research and Rehabilitation Hospital, University of São Paulo, Bauru were reviewed. Of these patients, 133 (1.2%) presented with Van der Woude syndrome. Results Of the 133 patients, 88 (66.2%) exhibited full clefts, 22 (16.5%) only cleft lip, and 23 (17.3%) only cleft palate. The lower-lip fistulae observed in these 133 patients were bilateral symmetric in 66 (49.7%), bilateral asymmetric in 42 (31.6%), microform In 19 (14.3%), median in 5 (3.8%), and unilateral in 1 (0.7%). Conclusion This population sample appears to exhibit the previously published tendency for bilateral, unilateral, or mixed-type congenital fistulae to be associated with cleft lip with or without cleft palate, while so-called microforms or conic elevations are almost exclusively associated with cleft palate.

scholarly journals Mutations in P63 and IRF-6 Present with Overlapping Craniofacial Defects: A study from Lebanon

2019 ◽  
pp. 1-3
Author(s):  
Mazen Kurban ◽  
Edgar Jabbour ◽  
Lamiaa Hamie ◽  
Mazen Kurban ◽  
Pamela Kassabian
Keyword(s):  
Transcription Factors ◽  
Cleft Lip ◽  
Interferon Regulatory Factor ◽  
Craniofacial Development ◽  
Regulatory Factor ◽  
Van Der Woude Syndrome ◽  
Interferon Regulatory Factor 6 ◽  
Cleft Lip Palate ◽  
Exon 9 ◽  
Craniofacial Defects

Interferon Regulatory Factor 6 (IRF-6) and p63 are two vital transcription factors implicated in normal craniofacial development. In this report, we present a family with Van Der Woude Syndrome (VWS) with a mutation in exon 9 of IRF-6 gene and a phenotypically overlapping case of Rapp-Hodgkin Syndrome (RHS) resulting from a mutation in the p63 gene. Members from both families presented with congenital lip pits and cleft lip/palate. The RHS case had additional ectodermal features that underscore the upstream nature of p63 in the complex p63-IRF-6 interactive pathway.

Prenatal diagnosis and management of Van der Woude syndrome

2016 ◽  
Vol 5 (1) ◽  
pp. 61-63
Author(s):  
Karla Ferreres García ◽  
Beatriz Berenguer ◽  
Luis Ortiz Quintana ◽  
Elena De Tomás Vicente ◽  
Ricardo Fernández Pérez-Pacheco ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate ◽  
Ultrasound Examination ◽  
Craniofacial Anomalies ◽  
Dominant Inheritance ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Postnatal Diagnosis ◽  
Variable Penetrance

Abstract We report the postnatal diagnosis of Van der Woude syndrome (VWS) in a foetus found to have an isolated right cleft lip and palate by ultrasound examination. After prenatal genetic counselling, the parents declined further evaluation by amniocentesis. At delivery, the infant was also found to have labial pits in the lower lip in addition to the cleft lip and palate identified by ultrasound consistent with VWS. Although VWS is rare, its autosomal dominant inheritance and variable penetrance should prompt additional modalities to more thoroughly evaluate the extent of other organ system and more extensive craniofacial anomalies.

Rare and Multiple Hypodontia in Van der Woude Syndrome: Case Report

2021 ◽  
pp. 105566562110582
Author(s):  
Aline Cristina da Silva Trevizan ◽  
Andréa Guedes Barreto Gonçales ◽  
Bruna Stuchi Centurion Pagin ◽  
Otávio Pagin ◽  
Lucimara Teixeira das Neves
Keyword(s):  
Case Report ◽  
Cleft Lip ◽  
Alveolar Bone ◽  
Detailed Examination ◽  
Permanent Teeth ◽  
Missing Teeth ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
The Family

Van der Woude syndrome (VWS) is a rare syndrome of genetic etiology, commonly occasioned by mutations in the IRF6 gene and that causes disorders in craniofacial development. VWS is characterized by the presence of paramedian fistulas in the lower lip and cleft lip and / or cleft palate. Although some dental phenotypes have been reported in this syndrome, multiple and rare hypodontias were not described. Through this case report, we present a case of Van der Woude Syndrome (VWS) with rare and multiple hypodontia in which clinical data and radiographic exams were evaluated. The patient presented hypodontia of eight permanent teeth (lateral incisors, second premolars and second molars). So, when the dentist recognizes multiple and/or rare hypodontias, for an accurate diagnosis, detailed examination of the lower lip is indicated, as well as a survey of the family history and referral for genetic counseling, since the syndrome presents high penetrance. The patient is expected to be rehabilitated to have a good quality of life. Rehabilitation in these cases requires alveolar bone graft, orthodontics and prosthesis to replace missing teeth.

scholarly journals Relative Copy Number Variations of CYP2C19 in South Indian Population

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Anichavezhi Devendran ◽  
Chakradhara Rao Satyanarayana Uppugunduri ◽  
Rajan Sundaram ◽  
Deepak Gopal Shewade ◽  
Krishnamoorthy Rajagopal ◽  
...  
Keyword(s):  
Copy Number ◽  
Promoter Region ◽  
Indian Population ◽  
Association Studies ◽  
Regulatory Region ◽  
Copy Number Variations ◽  
South Indian Population ◽  
Relative Copy Number ◽  
South Indian ◽  
Polymerase Chain

CYP2C19 is a polymorphic enzyme involved in the metabolism of clinically important drugs. Genotype-phenotype association studies of CYP2C19 have reported wide ranges in the metabolic ratios of its substrates. These discrepancies could be attributed to the variations in the promoter region and this aspect has been reported recently. The observations in the recent reports on the influence of promoter region variants on the metabolism of CYP2C19 substrates might also have been influenced by the copy number variations of CYP2C19. In this paper, we describe copy number variations of CYP2C19 using real-time polymerase chain reaction by comparative Ct method. No copy number variations were observed in the south Indian population indicating the observed discrepancies in genotype-phenotype association studies might be due to the regulatory region polymorphisms as reported earlier.

scholarly journals Identification of Copy Number Variation Among Nonsyndromic Cleft Lip and or Without Cleft Palate With Hypodontia: A Genome-Wide Association Study

2021 ◽  
Vol 12 ◽  
Author(s):  
Norliana Ghazali ◽  
Normastura Abd Rahman ◽  
Azlina Ahmad ◽  
Sarina Sulong ◽  
Thirumulu Ponnuraj Kannan
Keyword(s):  
Copy Number Variation ◽  
Cleft Palate ◽  
Copy Number ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Quantitative Polymerase Chain Reaction ◽  
Copy Number Variations ◽  
Genome Wide ◽  
A Genome ◽  
Number Variation

Nonsyndromic cleft lip and or without cleft palate (NSCL/P) with the hypodontia is a common developmental abnormality in humans and animals. This study identified the genetic aberration involved in both NSCL/P and hypodontia pathogenesis. A cross-sectional study using genome-wide study copy number variation-targeted CytoScan 750K array carried out on salivary samples from 61 NSCL/P and 20 noncleft with and without hypodontia Malay subjects aged 7–13 years old. Copy number variations (CNVs) of SKI and fragile histidine triad (FHIT) were identified in NSCL/P and noncleft children using quantitative polymerase chain reaction (qPCR) as a validation analysis. Copy number calculated (CNC) for each gene determined with Applied Biosystems CopyCaller Software v2.0. The six significant CNVs included gains (12q14.3, 15q26.3, 1p36.32, and 1p36.33) and losses (3p14.2 and 4q13.2) in NSCL/P with hypodontia patients compared with the NSCL/P only. The genes located in these regions encoded LEMD3, IGF1R, TP73, SKI, FHIT, and UGT2β15. There were a significant gain and loss of both SKI and FHIT copy number in NSCL/P with hypodontia compared with the noncleft group (p < 0.05). The results supported that CNVs significantly furnish to the development of NSCL/P with hypodontia.

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