Journal article
Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts
Molecular genetics & genomic medicine, Vol.11(10), e2237
10/2023
DOI: 10.1002/mgg3.2237
PMCID: PMC10568375
PMID: 37496383
Appears in UI Libraries Support Open Access
Abstract
INTRODUCTION The frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the frequency or reporting of SFs in Africans, who are underrepresented in large-scale population genomic studies. The availability of data from the first whole-genome sequencing for orofacial clefts in an African population motivated this investigation.
METHODS In total, 130 case-parent trios were analyzed for SFs within the ACMG SFv.3.0 list genes. Additionally, we filtered for four more genes (HBB, HSD32B, G6PD and ACADM).
RESULTS We identified 246 unique variants in 55 genes; five variants in four genes were classified as pathogenic or likely pathogenic (P/LP). The P/LP variants were seen in 2.3% (9/390) of the subjects, a frequency higher than ~1% reported for diverse ethnicities. On the ACMG list, pathogenic variants were observed in PRKAG (p. Glu183Lys). Variants in the PALB2 (p. Glu159Ter), RYR1 (p. Arg2163Leu) and LDLR (p. Asn564Ser) genes were predicted to be LP.
CONCLUSION This study provides information on the frequency and pathogenicity of SFs in an African cohort. Early risk detection will help reduce disease burden and contribute to efforts to increase knowledge of the distribution and impact of actionable genomic variants in diverse populations.
Details
- Title: Subtitle
- Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts
- Creators
- Abimbola Oladayo - University of IowaLord Jephthah Joojo Gowans - Kwame Nkrumah University of Science and TechnologyWaheed Awotoye - University of IowaAzeez Alade - University of IowaTamara Busch - University of IowaThirona Naicker - University of KwaZulu-NatalMekonen A Eshete - Addis Ababa UniversityWasiu L Adeyemo - University of LagosJacqueline B Hetmanski - Johns Hopkins UniversityErliang Zeng - University of IowaOlawale Adamson - University of LagosChinyere Adeleke - University of IowaMary Li - University of IowaVeronica Sule - University of IowaSami Kayali - University of IowaJoy Olotu - University of Port HarcourtPeter A Mossey - University of DundeeSolomon Obiri-Yeboah - Kwame Nkrumah University of Science and TechnologyCarmen J Buxo - University of Puerto Rico SystemTerri Beaty - Johns Hopkins UniversityMargaret Taub - Johns Hopkins UniversityPeter Donkor - Kwame Nkrumah University of Science and TechnologyMary L Marazita - University of PittsburghOluwakemi Odukoya - University of LagosAdebowale A Adeyemo - National Human Genome Research InstituteJeffrey C Murray - University of IowaAnya Prince - University of IowaAzeez Butali - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Molecular genetics & genomic medicine, Vol.11(10), e2237
- DOI
- 10.1002/mgg3.2237
- PMID
- 37496383
- PMCID
- PMC10568375
- NLM abbreviation
- Mol Genet Genomic Med
- ISSN
- 2324-9269
- eISSN
- 2324-9269
- Publisher
- Wiley
- Grant note
- Gabriella Miller Kids First Pediatric Research Program. Grant Number: X01-HL140516 National Institutes of Health. Grant Number: DE028300
- Language
- English
- Electronic publication date
- 07/26/2023
- Date published
- 10/2023
- Academic Unit
- Preventive and Community Dentistry; Roy J. Carver Department of Biomedical Engineering; Oral Pathology, Radiology and Medicine; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Biostatistics; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Law Faculty
- Record Identifier
- 9984453330602771
Metrics
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