Journal article
Missense Variants Within GJB2 Gene Locus and the Risk of Hearing Defects in Nonsyndromic Cleft Lip and Palate
The Journal of craniofacial surgery, Vol.32(7), pp.E676-E678
10/01/2021
DOI: 10.1097/SCS.0000000000007921
PMID: 34224455
Abstract
Aim: The aim of the study was to investigate the role of variants in GJB2 gene in the etiology of hearing defects in nonsyndromic cleft lip/palate.
Method: Saliva samples were obtained from cases (subjects with orofacial clefts) and control (subjects without orofacial clefts) who consented to the study. Deoxyribonucleic acid (DNA) was extracted using standardized protocol at Butali Lab (Iowa, IA). Primers for the coding region of GJB2 was designed using Primer 3 () and optimized in the Butali lab using a gradient polymerase chain reaction to determine the annealing temperature for each primer set (forward and reverse). We measured the DNA concentration using Qubit and XY genotyping done for quality control. A concentration of 5 ng/mu L of DNA was used for Sanger sequencing.
Results: A total of 150 subjects were sequenced (66 cases; 84 controls). Mutations in GJB2 gene were detected in 2 individuals with cleft palate. We found p.Arg165Trp variant in 1 case and p.Leu81Val variant in the second case. Although p.Arg165Trp was predicted to be either benign or tolerated by SIFT/POLYPHEN, the single nucleotide change from C>T, that is, CGG>TGG leads to a premature stop codon preventing the protein formation. The p.Leu81Val variant was predicted to be probably damaging/ deleterious.
Conclusions: The present study implicates variants in the GJB2 gene in the etiology of hearing defects in nonsyndromic cleft lip and palate in the Nigerian population. Screening for variations in GJB2 gene is important for genetic counseling especially in high-risk families.
Details
- Title: Subtitle
- Missense Variants Within GJB2 Gene Locus and the Risk of Hearing Defects in Nonsyndromic Cleft Lip and Palate
- Creators
- Wasiu Lanre Adeyemo - Lagos University Teaching HospitalOlutayo James - University of LagosBabatunde A. Bamigboye - Lagos University Teaching HospitalMoronke D. Akinola - Lagos University Teaching HospitalOlawale O. Adamson - Lagos University Teaching HospitalBenjamin N. Nkemjika - Lagos University Teaching HospitalAdebayo A. Ibikunle - Lagos University Teaching HospitalMobolanle O. Ogunlewe - University of LagosAkinola L. Ladeinde - University of LagosAzeez Butali - University of Iowa
- Resource Type
- Journal article
- Publication Details
- The Journal of craniofacial surgery, Vol.32(7), pp.E676-E678
- DOI
- 10.1097/SCS.0000000000007921
- PMID
- 34224455
- NLM abbreviation
- J Craniofac Surg
- ISSN
- 1049-2275
- eISSN
- 1536-3732
- Publisher
- Lippincott Williams & Wilkins
- Number of pages
- 3
- Grant note
- 2014/2015; K99/R00 DE022378 / Lagos State Research Development Council 72429 / Robert Wood Johnson Foundation; Robert Wood Johnson Foundation (RWJF)
- Language
- English
- Date published
- 10/01/2021
- Academic Unit
- Oral Pathology, Radiology and Medicine; Stead Family Department of Pediatrics; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984354117102771
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