A5076420809- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
- RNA modifications and cancer
- dental development and anomalies
- Prenatal Screening and Diagnostics
- Congenital Ear and Nasal Anomalies
- Congenital Anomalies and Fetal Surgery
- Pediatric Hepatobiliary Diseases and Treatments
- Ethics in Clinical Research
- Head and Neck Surgical Oncology
- Dental Health and Care Utilization
- Global Health and Surgery
- Oral microbiology and periodontitis research
- Plant Disease Resistance and Genetics
- HIV/AIDS oral health manifestations
- Folate and B Vitamins Research
- Head and Neck Cancer Studies
- Cancer-related molecular mechanisms research
- Parvovirus B19 Infection Studies
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Oral and Maxillofacial Pathology
- Plant Virus Research Studies
- Connective tissue disorders research
- Genomics and Rare Diseases
- Tracheal and airway disorders
Kwame Nkrumah University of Science and Technology
2016-2025
Komfo Anokye Teaching Hospital
2016-2024
University of Iowa
2016-2023
Kwame Nkrumah University
2021
Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) lip with or without (CL/P) ~17 million markers in sub-Saharan Africans. After replication combined analyses, we identified novel loci CPO at near significance on chromosomes 2 (near CTNNA2) 19 SULT2A1). In situ hybridization of Sult2a1 mice showed expression SULT2A1 mesenchymal cells palate,...
Background Recent advances in genomics methodologies, particular the availability of next‐generation sequencing approaches have made it possible to identify risk loci throughout genome, exome. In current study, we present findings from an exome study conducted five affected individuals a multiplex family with cleft palate only. Methods The GEnome MINIng (GEMINI) pipeline was used functionally annotate single nucleotide polymorphisms, insertions and deletions. Filtering methods were applied...
Orofacial clefts (OFCs) are congenital dysmorphologies of the human face and oral cavity, with a global incidence 1 per 700 live births. These anomalies exhibit multifactorial pattern inheritance, genetic environmental factors both playing crucial roles. Many loci have been implicated in etiology nonsyndromic cleft lip or without palate (NSCL/P) populations Asian European ancestries, through genome-wide association studies candidate gene studies. However, few African descent studied to date....
Abstract The majority (85%) of nonsyndromic cleft lip with or without palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology nsCL/P. To identify high impact protein-altering DNMs that contribute to risk nsCL/P, we conducted whole-genome sequencing (WGS) analyses 130 African case-parent trios (affected probands and unaffected parents). We identified 162 confidence some which are based on available evidence, These include novel...
Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it the most common form syndromic clefting may account for ~2% all OFCs. The majority VWS attributed to genetic variants IRF6 (~70%) or GRHL3 (~5%), leaving up 25% individuals with without molecular diagnosis. Both function transcriptional regulatory network governing differentiation periderm, single layer...
Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many loci harboring OFC-risk variants, there unknown determinants OFC. Furthermore, while process embryonic facial development is well characterized, molecular mechanisms that underly it not. This represents a major hurdle in understanding how disruptions these biological processes result Thus, we sought to identify novel through...
Objective To investigate the behavioral outcomes of children with clefts and psychosocial impact mental health experiences their caregivers regarding unintended genomic sequencing, that is, secondary genetic findings (SFs). Design Convergent parallel mixed methods. Setting The cleft immunization clinics at Lagos University Teaching, Hospital, Nigeria. Participants In total, 127 cases 158 control caregiver child dyads (quantitative) 22 (qualitative). Main Outcome Measures Standardized...
The etiology of dental anomalies is multifactorial; and genetic environmental factors that affect the lamina have been implicated. We investigated two families European ancestry in which males were affected by taurodontism, microdontia dens invaginatus. In both families, related to each other via unaffected females. A linkage analysis was conducted New Zealand family, followed exome sequencing focused X-chromosome. US X-chromosome Sanger conduct segregation analyses. identified independent...
Abstract Background A fundamental ethical issue in African genomics research is how socio-cultural factors impact perspectives, acceptance, and utility of genomic information, especially stigmatizing conditions like orofacial clefts (OFCs). Previous has shown that gatekeepers (e.g., religious, political, family or community leaders) wield considerable influence on the decision-making capabilities their members, including health issues. Thus, perspectives can inform design engagement...
In contrast to the progress that has been made toward understanding genetic etiology of cleft lip with or without palate, relatively little is known about for palate only (CPO). A common coding variant grainyhead like transcription factor 3 ( GRHL3) was recently shown be associated risk CPO in Europeans. Mutations this gene were also reported families Van der Woude syndrome. To identify rare mutations GRHL3 might explain missing heritability CPO, we sequenced cases from Africa. We recruited...
Background Inadequate knowledge among health care providers (HCPs) and parents of affected children limits the understanding utility secondary genetic findings (SFs) in under-represented populations genomics research. SFs arise from deep DNA sequencing done for research or diagnostic purposes may burden patients their families despite potential importance. This study aims to evaluate perspective both groups regarding choices return results testing context orofacial clefts.
Risk loci identified through genome-wide association studies have explained about 25% of the phenotypic variations in nonsyndromic orofacial clefts (nsOFCs) on liability scale. Despite notable sex differences incidences different cleft types, investigation for sex-specific effects has been understudied. To explore genetic etiology nsOFCs, we conducted a gene × (GxSex) interaction study sub-Saharan African cohort. The sample included 1,019 cases (814 lip with or without palate and 205 only)...
The frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the or reporting SFs in Africans, who are underrepresented large-scale population studies. availability first whole-genome sequencing for orofacial clefts an African motivated this investigation.
Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across spectrum defects involving hard and/or soft palate. We performed genome-wide association study using transmission disequilibrium tests 435 case-parent trios to evaluate broad risks for any cleft (ACP) (n = 435),...
Background:Craniofacial Trauma and Anomalies affect a substantial proportion of the global society, especially those in low-and middle-income countries (LMICs). The literature stresses concept team approach for craniofacial surgery need interaction many specialists to provide optimal care patient. Craniofacial is practiced mainly advanced Europe America. This report describes establishment an African country. It reports on 6-year early outcomes low-resourced country, counting successes,...
Background: The most prevalent non-communicable disease worldwide is oral health-related disease, with dental caries and periodontal conditions being common. Oral health status significantly impacts overall quality of life. Barriers to care affect children special needs. This study evaluates the treatment requirements people Methodology: descriptive cross-sectional in Kumasi, Ghana examined among people, 121 needs over two months, June-July 2022. Dental caries, changes, malocclusion, trauma...
Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 risk loci have been identified, they explain only small proportion of the heritability for NSOFCs. Rare variants implicated in missing heritability. Thus, our study aimed to identify genes enriched nonsynonymous rare coding associated Our sample included 814 non-syndromic cleft lip or without palate (NSCL/P), 205 (NSCPO), and 2150 unrelated control children from Nigeria, Ghana, Ethiopia....
ABSTRACT Non-syndromic orofacial clefts (NSOC) are common craniofacial birth defects, and result from both genetic environmental factors. NSOC include three major sub-phenotypes: non-syndromic cleft lip with palate (NSCLP), only (NSCLO) (NSCPO), NSCLP NSCLO also sometimes grouped as or without (NSCL/P) based on epidemiology. Currently known loci explain a limited proportion of the heritability NSOC. Further, differences in susceptibility among sub-phenotypes poorly characterized. We...
Abstract Background Orofacial clefts are congenital malformations of the orofacial region, with a global incidence one per 700 live births. Interferon Regulatory Factor 6 ( IRF ) OMIM :607199) gene has been associated etiology both syndromic and nonsyndromic clefts. The aim this study was to show evidence potentially pathogenic variants in cohorts from Africa. Methods We carried out Sanger Sequencing on DNA 184 patients 80 individuals multiple anomalies that presented sequenced all nine...
Objective: Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental genetic risk factors playing crucial roles. Though at least 40 loci attained genomewide significant association nonsyndromic CL/P, these largely reside in noncoding regions human genome, subsequent resequencing studies neighboring candidate genes revealed only a limited number etiologic coding variants. The present study was conducted to identify...
Abstract AMOTL1 encodes angiomotin‐like protein 1, an actin‐binding that regulates cell polarity, adhesion, and migration. The role of in human disease is equivocal. We report a large cohort individuals harboring heterozygous variants define core phenotype orofacial clefting, congenital heart disease, tall stature, auricular anomalies, gastrointestinal manifestations with affecting amino acids 157–161, functionally undefined but highly conserved region. Three outside this region are also...
Background: Despite significant advances in cleft lip and palate (CLP) care, the often quoted "rule of 10 s" has not been objectively investigated concerning its practicality since inception, especially, low-resourced country like Ghana.Aim Study: This was to evaluate unilateral weight, haemoglobin surgical repair outcome by considering "Rule 10's".Materials Methods: A retrospective study all consecutive patients who presented with were operated on during period 2011 2015.The information...