Publications by authors named "Babatunde S Aregbesola"
The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact protein-altering DNMs that contribute to the risk of nsCL/P, we conducted whole-genome sequencing (WGS) analyses in 130 African case-parent trios (affected probands and unaffected parents). We identified 162 high confidence protein-altering DNMs some of which are based on available evidence, contribute to the risk of nsCL/P.
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- Orofacial clefts, including cleft palate only (CPO) and cleft lip with or without palate (CL/P), are prevalent developmental disorders that create various clinical and psychological challenges.
- In a study involving around 17 million genetic markers among sub-Saharan African populations, researchers identified new genetic loci associated with CPO on chromosomes 2 and 19, suggesting potential biological mechanisms.
- The study confirmed the significance of previously known loci such as 8q24 for CL/P, along with the replication of other established genes like PAX7 and VAX1, contributing to our understanding of these conditions.
Background: Orofacial clefts are the most common malformations of the head and neck region. Genetic and environmental factors have been implicated in the etiology of these traits.
Methods: We recently conducted genotyping of individuals from the African population using the multiethnic genotyping array (MEGA) to identify common genetic variation associated with nonsyndromic orofacial clefts.
Article Synopsis
- Cleft lip and/or cleft palate (CL/P) are facial birth defects influenced by genetic and environmental factors, with significant genetic associations identified mostly in noncoding regions of the genome.
- The study focused on identifying coding variants in the GREM1 gene by analyzing DNA from 397 individuals with CL/P from sub-Saharan Africa and found two novel variants not present in control groups.
- Results showed one variant associated with a soft palate cleft and another in a case with a bilateral cleft lip, suggesting regulatory elements, rather than coding variants, may drive the connection between GREM1 and CL/P.
Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P.
View Article and Find Full Text PDFCleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized.
View Article and Find Full Text PDFOrofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (OMIM) database, of which Van der Woude syndrome (VWS) is one of the most common (accounting for 2% of all OFC). Popliteal pterygium syndrome (PPS) is considered to be a more severe form of VWS.
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