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  • 1
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    Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome
    Wiley ; 2020
    In:  Molecular Genetics & Genomic Medicine Vol. 8, No. 8 ( 2020-08)
    Details
    In: Molecular Genetics & Genomic Medicine, Wiley, Vol. 8, No. 8 ( 2020-08)
    Abstract: The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well‐organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for 70% of cases with the majority of these mutations located in the DNA‐binding (exon 3, 4) or protein‐binding domains (exon 7–9). The current study was designed to update the list of IRF6 variants reported for VWS by compiling all the published mutations from 2013 to date as well as including the previously unreported VWS cases from Africa and Puerto Rico. Methods We used PubMed with the search terms; "Van der Woude syndrome," “Popliteal pterygium syndrome,” "IRF6," and "Orofacial cleft" to identify eligible studies. We compiled the CADD score for all the mutations to determine the percentage of deleterious variants. Results Twenty‐one new mutations were identified from nine papers. The majority of these mutations were in exon 4. Mutations in exon 3 and 4 had CADD scores between 20 and 30 and mutations in exon 7–9 had CADD scores between 30 and 40. The presence of higher CADD scores in the protein‐binding domain (exon 7–9) further confirms the crucial role played by this domain in the function of IRF6. In the new cases, we identified five IRF6 mutations, three novel missense mutations (p.Phe36Tyr, p.Lys109Thr, and p.Gln438Leu), and two previously reported nonsense mutations (p.Ser424*and p.Arg250*). Conclusion Mutations in the protein and DNA‐binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes.
    Type of Medium: Online Resource
    ISSN: 2324-9269 , 2324-9269
    URL: Issue
    URL: Article
    DOI: 10.1002/mgg3.v8.8
    DOI: 10.1002/mgg3.1355
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2734884-2
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  • 2
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    Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes
    Wiley ; 2021
    In:  Molecular Genetics & Genomic Medicine Vol. 9, No. 4 ( 2021-04)
    Details
    In: Molecular Genetics & Genomic Medicine, Wiley, Vol. 9, No. 4 ( 2021-04)
    Abstract: Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three‐dimensional abnormality of the leg, ankle, and feet that leads to the anomalous positioning of foot and ankle joints and has an incidence of 1 per 1000 live births. OFCs and CTEV may occur together or separately in certain genetic syndromes in addition to other congenital abnormalities. Here, we sought to decipher the genetic etiology of OFC and CTEV that occurred together in six probands. Methods At the time of recruitment, the most clinically obvious congenital anomalies in these individuals were the OFC and CTEV. We carried out whole‐exome sequencing (WES) on DNA samples from probands and available parents employing the Agilent SureSelect XT kit and Illumina HiSeq2500 platform, followed by bioinformatics analyses. WES variants were validated by clinical Sanger Sequencing. Results Of the six probands, we observed probable pathogenic genetic variants in four. In three probands with probable pathogenic genetic variants, each individual had variants in three different genes, whereas one proband had probable pathogenic variant in just one gene. In one proband, we observed variants in DIS3L2 , a gene associated with Perlman syndrome. A second proband had variants in EPG5 (associated with Vici Syndrome), BARX1 and MKI67 , while another proband had potentially etiologic variants in FRAS1 (associated with Fraser Syndrome 1), TCOF1 (associated with Treacher Collins Syndrome 1) and MKI67 . The last proband had variants in FRAS1 , PRDM16 (associated with Cardiomyopathy, dilated, 1LL/Left ventricular noncompaction 8) and CHD7 (associated with CHARGE syndrome/Hypogonadotropic hypogonadism 5 with or without anosmia). Conclusion Our results suggest that clubfoot and OFCs are two congenital abnormalities that can co‐occur in certain individuals with varying genetic causes and expressivity, warranting the need for deep phenotyping.
    Type of Medium: Online Resource
    ISSN: 2324-9269 , 2324-9269
    URL: Issue
    URL: Article
    DOI: 10.1002/mgg3.v9.4
    DOI: 10.1002/mgg3.1655
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2734884-2
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  • 3
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    Facial Anthropometry Measurements Using Three-Dimensional Stereophotogrammetry Analysis Among Nigerians
    Ovid Technologies (Wolters Kluwer Health) ; 2022
    In:  Journal of Craniofacial Surgery Vol. 33, No. 4 ( 2022-06), p. 1178-1181
    Details
    In: Journal of Craniofacial Surgery, Ovid Technologies (Wolters Kluwer Health), Vol. 33, No. 4 ( 2022-06), p. 1178-1181
    Abstract: This study aimed to determine the normative facial anthropometry measurement among Nigerians using three-dimensional stereophotogrammetry analysis. This study was carried out in Lagos, Nigeria over a period of 3 years. The sample population was Nigerians of diverse ethnic groups, age 16 and above with no history of congenital or acquired craniofacial deformities. A total of 452 subjects participated in the study with 56.2% males and 43.8% females. Most of the participants were between the ages of 25 to 49 (54.4%), 40.7% were less than 25 years of age and only 4.4% were more than 50 years old. The mean body mass index (BMI) for males was 22.7 and 23.4 for females. Mean values of upper facial height, midfacial height, lower facial height, intercanthal distance, interpupillary distance, upper facial width, and lower facial width are 69.13 ± 5.91, 49.89 ± 3.56, 67.85 ± 6.12, 35.19 ± 3.20, 67.04 ± 3.67, 139.43 ± 7.11, and 124.29 ± 9.72 mm, respectively. The upper facial height, commissure width, upper lip length, and lower jaw width were significantly affected by age, while the BMI of an individual was a determinant of the interpupillary distance, facial width, and lower jaw width. This study demonstrated that there was a statistically significant difference in the facial dimensions of males when compared to females across all ages among the study population. The authors also observed that age and BMI are significant predictors of variations in some of the measurements.
    Type of Medium: Online Resource
    ISSN: 1049-2275 , 1536-3732
    URL: Article
    DOI: 10.1097/SCS.0000000000008036
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2022
    detail.hit.zdb_id: 2060546-8
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  • 4
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    Replication of GWAS significant loci in a sub-Saharan African Cohort with early childhood caries: a pilot study
    Springer Science and Business Media LLC ; 2021
    In:  BMC Oral Health Vol. 21, No. 1 ( 2021-12)
    Details
    In: BMC Oral Health, Springer Science and Business Media LLC, Vol. 21, No. 1 ( 2021-12)
    Abstract: Early childhood caries (ECC) is a rapidly progressing form of dental infection and a significant public health problem, especially among socially and economically disadvantaged populations. This study aimed to assess the risk factors for ECC among a cohort of Sub-Saharan African children and to determine the role of genetics in the etiology of ECC. Methods A sample of 691 children (338 with ECC, 353 without ECC, age  〈  6 years) was recruited from schools in Lagos, Nigeria. Socio-demographic, dental services utilization and infant dietary data were obtained with interviewer-administered questionnaire. Oral examination was conducted using the WHO oral health diagnostic criteria. Saliva samples were collected from the children for genetic analysis. Single nucleotide polymorphisms were selected from previous study for genotyping. Genetic association analyses to investigate the role of genetics in the etiology of ECC was done. Bivariate comparisons and Multivariate logistic regression analyses were conducted to assess associations between ECC and predictor variables, p  〈  0.05. Results Of the 338 children with ECC, 64 (18.9%) had Severe-Early Childhood Caries (S-ECC). Children aged 48–59 months comprised the highest proportion of subjects with ECC (165; 48.8%) and S-ECC (24; 37.5%) while female subjects had higher dt (3.13 ± 2.56) and dmft values 3.27 ± 2.64. ECC was significantly more prevalent among children who were breastfed at night ≥ 12 months (OR 3.30; CI 0.39, 4.75), those with no previous dental visit (OR 1.71; CI 0.24, 2.77), those who used sweetened pacifiers (OR 1.85; CI 0.91, 3.79) and those who daily consumed sugar-sweetened drinks/snacks (OR 1.35; CI 0.09, 18.51). A suggestive increased risk for ECC (OR 1.26, p = 0. 0.0397) was observed for the genetic variant rs11239282 on chromosome 10. We also observed a suggestive reduced risk for ECC (OR 0.80, p = 0.03) for the rs131777 on chromosome 22. None of the genetic variants were significant after correction for multiple testing (Bonferroni p value p = 0.004). Conclusions Prolonged night-time breastfeeding, poor utilization of dental services and daily consumption of sugar were risk factors for ECC. Larger sample size is needed to confirm the results of the genetic analysis and to conduct genome wide studies in order to discover new risk loci for ECC.
    Type of Medium: Online Resource
    ISSN: 1472-6831
    URL: Article
    DOI: 10.1186/s12903-021-01623-y
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2091511-1
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  • 5
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    Glimepiride prevents paraquat‐induced Parkinsonism in mice: involvement of oxidative stress and neuroinflammation
    Wiley ; 2019
    In:  Fundamental & Clinical Pharmacology Vol. 33, No. 3 ( 2019-06), p. 277-285
    Details
    In: Fundamental & Clinical Pharmacology, Wiley, Vol. 33, No. 3 ( 2019-06), p. 277-285
    Abstract: There is a growing number of epidemiological and molecular studies which suggest that diabetes is associated with an increased risk of Parkinson's disease ( PD ). Hence, in this study, the effect of glimepiride ( GPD ), a sulphonylurea (antidiabetic) on paraquat ( PQT )‐induced Parkinsonism was evaluated in mice. Thirty‐six mice were randomly divided into six groups ( n = 6) and treated orally for 21 consecutive days as follows: Group 1: vehicle (10 mL/kg), Group 2: PQT (10 mg/kg, i.p., twice per week for 3 weeks), Group 3–5: GPD (1, 2 or 4 mg/kg) + PQT (10 mg/kg, i.p., twice per week for 3 weeks), Group 6: GPD (4 mg/kg, p.o.). The effects of the treatment on motor coordination were evaluated using the rotarod performance, bar and open field tests while working memory was assayed using Y‐maze test. Paraquat injection induced significant decrease in falling time, number of crosses and percentage alternation behaviour with a concomitant increase in the duration of cataleptic behaviour in the rotarod, open field, Y‐maze and bar tests, respectively, which was ameliorated by GPD treatment. PQT also increased lipid peroxidation, peroxynitrite and TNF ‐α generations as well as deficit in superoxide dismutase and GSH activities in the midbrain. PQT ‐induced oxidative stress and neuroinflammation was attenuated by GPD treatment. Findings from this study showed that GPD prevents PQT‐induced motor dysfunction, memory impairment, oxidative stress and neuroinflammation through enhancement of antioxidant defense system and inhibition of pro‐inflammatory cytokine release. Thus, GPD could be a potential adjunct in the management of Parkinsonism.
    Type of Medium: Online Resource
    ISSN: 0767-3981 , 1472-8206
    URL: Issue
    URL: Article
    DOI: 10.1111/fcp.2019.33.issue-3
    DOI: 10.1111/fcp.12434
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 2006242-4
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  • 6
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    Alveolar ridge preservation reduces the need for ancillary bone augmentation in the context of implant therapy
    Wiley ; 2022
    In:  Journal of Periodontology Vol. 93, No. 6 ( 2022-06), p. 847-856
    Details
    In: Journal of Periodontology, Wiley, Vol. 93, No. 6 ( 2022-06), p. 847-856
    Abstract: There is limited information on the need for bone augmentation in the context of delayed implant placement whether alveolar ridge preservation (ARP) is previously performed or not. The primary aim of this retrospective cohort study was to evaluate the efficacy of ARP therapy after tooth extraction compared with unassisted socket healing (USH) in reducing the need for ancillary bone augmentation before or at the time of implant placement. Methods Adult subjects that underwent non‐molar single tooth extraction with or without simultaneous ARP therapy were included in this study. Cone beam computed tomography scans obtained before tooth extraction and after a variable healing period were used to record the baseline facial bone thickness and to virtually plan implant placement according to a standard method. A logistic regression model was used to evaluate the effect of facial alveolar bone thickness upon tooth extraction and baseline therapy (USH or ARP) on the need for additional bone augmentation, adjusting for several covariates (i.e., age, sex, baseline KMW, and tooth type). Results One hundred and forty subjects that were equally distributed between both baseline therapy groups constituted the study population. Implant placement was deemed virtually feasible in all study sites. Simultaneous bone augmentation was considered necessary in 60% and 11.4% of the sites in the USH and ARP group, respectively. Most of these sites (64.2% in the USH group and 87.5% in the ARP group) exhibited a thin facial bone phenotype ( 〈 1 mm) at baseline. Logistic regression revealed that the odds of not needing ancillary bone augmentation were 17.8 times higher in sites that received ARP therapy. Furthermore, the need for additional bone augmentation was reduced 7.7 times for every 1 mm increase in facial bone thickness, regardless of baseline therapy. Conclusions Based on a digital analysis, ARP therapy, compared with USH, and thick facial alveolar bone largely reduce the need for ancillary bone augmentation at the time of implant placement in non‐molar sites.
    Type of Medium: Online Resource
    ISSN: 0022-3492 , 1943-3670
    URL: Issue
    URL: Article
    DOI: 10.1002/jper.v93.6
    DOI: 10.1002/JPER.22-0030
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2040047-0
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  • 7
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    Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
    SAGE Publications ; 2022
    In:  The Cleft Palate-Craniofacial Journal
    Details
    In: The Cleft Palate-Craniofacial Journal, SAGE Publications
    Abstract: Novel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we investigated the human genome for high-impact mutations that could explain the risk of nsCL ± P in our cohorts. We conducted next-generation sequencing (NGS) analysis of 130 nsCL ± P case-parent African trios to identify pathogenic variants that contribute to the risk of clefting. We replicated this analysis using whole-exome sequence data from a Brazilian nsCL ± P cohort. Computational analyses were then used to predict the mechanism by which these variants could result in increased risks for nsCL ± P. We discovered damaging mutations within the AFDN gene, a cell adhesion molecule (CAMs) that was previously shown to contribute to cleft palate in mice. These mutations include p.Met1164Ile, p.Thr453Asn, p.Pro1638Ala, p.Arg669Gln, p.Ala1717Val, and p.Arg1596His. We also discovered a novel splicing p.Leu1588Leu mutation in this protein. Computational analysis suggests that these amino acid changes affect the interactions with other cleft-associated genes including nectins (PVRL1, PVRL2, PVRL3, and PVRL4) CDH1, CTNNA1, and CTNND1. This is the first report on the contribution of AFDN to the risk for nsCL ± P in humans. AFDN encodes AFADIN, an important CAM that forms calcium-independent complexes with nectins 1 and 4 (encoded by the genes PVRL1 and PVRL4). This discovery shows the power of NGS analysis of multiethnic cleft samples in combination with a computational approach in the understanding of the pathogenesis of nsCL ± P.
    Type of Medium: Online Resource
    ISSN: 1055-6656 , 1545-1569
    URL: Article
    DOI: 10.1177/10556656221135926
    RVK:
    XA 36625
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2022
    detail.hit.zdb_id: 2030056-6
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  • 8
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    Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate
    Springer Science and Business Media LLC ; 2022
    In:  Scientific Reports Vol. 12, No. 1 ( 2022-07-11)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 12, No. 1 ( 2022-07-11)
    Abstract: 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. These include novel protein-truncating DNMs in the ACTL6A, ARHGAP10, MINK1, TMEM5 and TTN genes; as well as missense variants in ACAN, DHRS3, DLX6, EPHB2, FKBP10, KMT2D, RECQL4, SEMA3C, SEMA4D, SHH, TP63, and TULP4 . Many of these protein-altering DNMs were predicted to be pathogenic. Analysis using mouse transcriptomics data showed that some of these genes are expressed during the development of primary and secondary palate. Gene-set enrichment analysis of the protein-altering DNMs identified palatal development and neural crest migration among the few processes that were significantly enriched. These processes are directly involved in the etiopathogenesis of clefting. The analysis of the coding sequence in the WGS data provides more evidence of the opportunity for novel findings in the African genome.
    Type of Medium: Online Resource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/s41598-022-15885-1
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2615211-3
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  • 9
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    Variant analyses of candidate genes in orofacial clefts in multi‐ethnic populations
    Wiley ; 2022
    In:  Oral Diseases Vol. 28, No. 7 ( 2022-10), p. 1921-1935
    Details
    In: Oral Diseases, Wiley, Vol. 28, No. 7 ( 2022-10), p. 1921-1935
    Abstract: Cleft lip with/without cleft palate and cleft palate only is congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births worldwide, these orofacial clefts impose significant social and financial burdens on affected individuals and their families. Orofacial clefts have a complex etiology resulting from genetic variants combined with environmental covariates. Recent genome‐wide association studies and whole‐exome sequencing for orofacial clefts identified significant genetic associations and variants in several genes. Of these, we investigated the role of common/rare variants in SHH , RORA , MRPL53 , ACVR1 , and GDF11 . Materials and Methods We sequenced these five genes in 1255 multi‐ethnic cleft lip with/without palate and cleft palate only samples in order to find variants that may provide potential explanations for the missing heritability of orofacial clefts. Rare and novel variants were further analyzed using in silico predictive tools. Results Ninteen total variants of interest were found, with variant types including stop‐gain, missense, synonymous, intronic, and splice‐site variants. Of these, 3 novel missense variants were found, one in SHH , one in RORA , and one in GDF11 . Conclusion This study provides evidence that variants in SHH , RORA , MRPL53 , ACVR1 , and GDF11 may contribute to risk of orofacial clefts in various populations.
    Type of Medium: Online Resource
    ISSN: 1354-523X , 1601-0825
    URL: Issue
    URL: Article
    DOI: 10.1111/odi.v28.7
    DOI: 10.1111/odi.13932
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2008428-6
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  • 10
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    Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts
    Wiley ; 2023
    In:  Molecular Genetics & Genomic Medicine
    Details
    In: Molecular Genetics & Genomic Medicine, Wiley
    Abstract: 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.
    Type of Medium: Online Resource
    ISSN: 2324-9269 , 2324-9269
    URL: Article
    DOI: 10.1002/mgg3.2237
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2734884-2
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