Genetic Studies in the Nigerian Population Implicate an <i>MSX1</i> Mutation in Complex Oral Facial Clefting Disorders

Butali, Azeez; Mossey, Peter; Adeyemo, WL; Jezewski, Peter A.; Onwuamah, Chika; Ogunlewe, M.O.; Ugboko, V.I.; Adejuyigbe, O; Adigun, A. Ismaila; Abdur-Rahman, Lukman O.; Onah, Ifeanyichukwu Igwilo; Audu, Rosemary; Idigbe, Emmanuel O.; Mansilla, M. Adela; Dragan, Ecaterina; Petrin, Aline; Bullard, Stephen; Uduezue, AU; Akpata, O; Osaguona, Anthony; Olasoji, H O; Ligali, Taofeek Olalekan; Kejeh, Benjamin M; Iseh, KR; Olaitan, Peter B; Adebola, Adetokunbo R; Efunkoya, E; Adesina, OA; Oluwatosin, Odunayo M; Murray, Jeffrey C.

doi:10.1597/10-133

Cited by 38 publications

(46 citation statements)

References 43 publications

(68 reference statements)

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“…Screening of the MSX1 gene revealed a missense variant (Ala40Gly), which was associated with orofacial clefting with tooth agenesis in a US population . More recently, another study in a Nigerian population demonstrated the association of this variant with isolated orofacial clefting . We found this variant in only eight patients (Tables S1 and ).…”

Section: Discussionmentioning

confidence: 57%

Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series

Mastouri

Coster

Zaghabani

et al. 2017

European J Oral Sciences

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study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series. Eur J Oral Sci 2018; 126: 24-32. © 2017 Eur J Oral Sci Non-syndromic tooth agenesis (NSTA) is the most common developmental anomaly in humans. Several studies have been conducted on dental agenesis and numerous genes have been identified. However, the pathogenic mechanisms responsible for NSTA are not clearly understood. We studied a group of 28 patients with sporadic NSTA and nine patients with a family history of tooth agenesis. We focused on four genes -paired box 9 (PAX9), Wnt family member 10A (WNT10A), msh homeobox 1 (MSX1), and axin 2 (AXIN2) -using direct Sanger sequencing of the exons and intron-exon boundaries. The most prevalent variants identified in PAX9 and AXIN2 genes were analyzed using the chi-square test. The sequencing results revealed a number of variants in the AXIN2 gene, including one novel missense mutation in one patient with agenesis of a single second premolar. We also identified one variant in the AXIN2 gene as being a putative risk factor for tooth agenesis. Only one missense mutation was identified in the WNT10A gene and this mutation was found in two patients. Interestingly, WNT10A is reported as the most prevalent gene mutated in the European population with NSTA.

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Section: Discussionmentioning

confidence: 57%

Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series

Mastouri

Coster

Zaghabani

et al. 2017

European J Oral Sciences

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“…In particular, few studies have been done in African-derived populations; given their low birth prevalence, results from such populations could provide particular insights into OFC. Two studies have tested the loci significant in Caucasians and Asians, with no significant findings to date (21, 148). Other questions come from OFC epidemiology features, such as, is there a difference in risk variants for multiplex versus sporadic cases?…”

Section: Future Directions and Challengesmentioning

confidence: 99%

The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

Marazita

2012

Annu. Rev. Genom. Hum. Genet.

191

167

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Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence. Interest in these birth defects goes back centuries, as does formal scientific interest; scientists often used OFCs as examples or evidence during paradigm shifts in human genetics, and have also used virtually every new method of human genetic analysis to deepen our understanding of OFC. This review traces the evolution of human genetic investigations of OFC, highlights the specific insights gained about OFC through the years, and culminates in a review of recent key OFC genetic findings resulting from the powerful tools of the genomics era. Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future.

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“…The association of the FOXE1 gene with NSCL/P has been confirmed in Thai, Caucasian and Han Chinese populations . However, some studies have shown that there is no significant correlation between FOXE1 and NSCL/P …”

Section: Discussionmentioning

confidence: 95%

Association between forkhead box E1 polymorphisms and risk of non‐syndromic cleft lip with or without cleft palate: A meta‐analysis

Xiao

Jia

Guo

et al. 2020

Orthod Craniofacial Res

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Objective The purpose of the present work was to investigate the association between forkhead box E1 (FOXE1) and the risk of non‐syndromic cleft lip with or without cleft palate (NSCL/P). Materials and Methods Relevant studies were searched in several professional databases up to 31 July 2019. The pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using a fixed‐effect model or a random‐effect model to analyse the relationship between FOXE1 polymorphisms and NSCL/P. Results A total of four single nucleotide polymorphisms (SNPs), including rs3758249, rs4460498, rs1443434 and rs10217225, were analysed. The overall findings showed that FOXE1 rs4460498 was statistically associated with NSCL/P (including cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO)). Genotypes CC and CT of rs4460498 were significantly more closely correlated with NSCL/P (including CL/P and CPO) than genotype TT (NSCL/P: TT vs CC, OR = 0.630, P = .000; TT vs TC + CC, OR = 0.775, P = .020; CL/P: TT vs CC, OR = 0.664, P = .000; TT vs TC + CC, OR = 0.738, P = .006. CPO: TT vs CC, OR = 0.761, P = .027; TT vs TC + CC, OR = 0.792, P = .045). For rs10217225, only the TT genotype might have contributed to the elevated risk of CL/P (TT vs CC OR = 2.236, P = .000). The other FOXE1 polymorphisms were not associated with NSCLP, CL/P or CPO. Conclusion The meta‐analysis provided confirmation that the polymorphism of FOXE1 rs10217225 was correlated with an increased risk of CL/P, and the polymorphism of FOXE1 rs4460498 was a protective factor for NSCL/P, including CLP and CPO.

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Genetic Studies in the Nigerian Population Implicate an MSX1 Mutation in Complex Oral Facial Clefting Disorders

Cited by 38 publications

References 43 publications

Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series

Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series

The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

Association between forkhead box E1 polymorphisms and risk of non‐syndromic cleft lip with or without cleft palate: A meta‐analysis

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