Mutations in Van Der Woude Families From Ethiopia

Mekonen Eshete; Azeez Alade; Fikre Abate; Peter A Mossey; Waheed A Awotoye; Tamara Busch; Abiye Hailu; Yohannes Demissie; Azeez Butali

doi:10.1097/SCS.0000000000008142

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Mutations in Van Der Woude Families From Ethiopia

Journal article

Peer reviewed

Mutations in Van Der Woude Families From Ethiopia

Mekonen Eshete, Azeez Alade, Fikre Abate, Peter A Mossey, Waheed A Awotoye, Tamara Busch, Abiye Hailu, Yohannes Demissie and Azeez Butali

The Journal of craniofacial surgery, Vol.33(2), pp.e138-E140

03/2022

DOI: 10.1097/SCS.0000000000008142

PMCID: PMC9701524

PMID: 34643600

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Abstract

Van der Woude syndrome (VWS) is the most common syndromic orofacial cleft which accounts for approximately 2% of all cleft lip (CL) and/or palate cases. It is characterized by the presence of lower lip pits, in addition to CL, CL with or without cleft palate, cleft palate only, and hypodontia. It is inherited as an autosomal-dominant trait with almost complete penetrance but variable expressivity, and different variants in IRF6 gene have been reported in different populations around the world including African populations (Ethiopian, Ghanaian, and Nigerian). The authors investigated the role of IRF6 in Ethiopian families with VWS. The DNA of 7 families with VWS from Ethiopia were screened by Sanger sequencing. The authors screened all 9 exons of IRF6 and found a novel missense variant in exon 4 (p. Gly65Glu). This variant was predicted to be deleterious/probably damaging by Sift and PolyPhen, respectively. The IRF6 variant (p. Gly65Glu) segregates in the family since it was identified in the father and a sibling. Several of the individuals with lower lip pits in this study did not seek treatment. This is due to lack of awareness about the significance of this minor looking deformity and its consequences, and availability of treatment for birth defects. Therefore, it is important to educate families. Finally, screening for novel variants in known genes has a role in counseling and prenatal diagnosis for high-risk families.

Abnormalities, Multiple

Cleft Lip - genetics

Cleft Palate - genetics

Cysts

Ethiopia

Ghana

Humans

Interferon Regulatory Factors - genetics

Lip - abnormalities

Mutation

Pedigree

Details

Title: Subtitle: Mutations in Van Der Woude Families From Ethiopia
Creators: Mekonen Eshete - University of Iowa
Azeez Alade - University of Iowa
Fikre Abate - Department of Plastic and Reconstructive Surgery, Yekatit 12 Hospital Medical College, Addis Ababa, Ethiopia
Peter A Mossey - University of Dundee
Waheed A Awotoye - University of Iowa
Tamara Busch - University of Iowa
Abiye Hailu - Department of Plastic and Reconstructive Surgery, Yekatit 12 Hospital Medical College, Addis Ababa, Ethiopia
Yohannes Demissie - Department of Plastic and Reconstructive Surgery, Yekatit 12 Hospital Medical College, Addis Ababa, Ethiopia
Azeez Butali - University of Iowa
Resource Type: Journal article
Publication Details: The Journal of craniofacial surgery, Vol.33(2), pp.e138-E140
DOI: 10.1097/SCS.0000000000008142
PMID: 34643600
PMCID: PMC9701524
NLM abbreviation: J Craniofac Surg
ISSN: 1049-2275
eISSN: 1536-3732
Grant note: R90 DE024296 / NIDCR NIH HHS R01 DE028300 / NIDCR NIH HHS K99 DE022378 / NIDCR NIH HHS R00 DE022378 / NIDCR NIH HHS
Language: English
Date published: 03/2022
Academic Unit: Oral Pathology, Radiology and Medicine; Stead Family Department of Pediatrics; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984353829702771

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