Polymorphism in the MSX1 gene in a family with upper lateral incisor agenesis

Junior, Breno Ramos Boeira; Echeverrigaray, S.

doi:10.1016/j.archoralbio.2012.04.008

Cited by 14 publications

(7 citation statements)

References 28 publications

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“…This variant has previously and repetitively been reported to be associated with NSTA (36,37). Another study has hypothesized that this variant is not solely associated with agenesis of the upper lateral incisor, suggesting that additional variants may contribute to this phenotype (38,39).…”

Section: Discussionmentioning

confidence: 89%

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: 89%

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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“…It has been shown that two intronic variants of the PAX9 gene, rs7149262 and rs8004560, are correlated with an increased risk of MLIA in the Portuguese population (29). BOEIRA & ECHEVERRIGARAY (38) have suggested that the polymorphic variant, rs8670, which is located in the 3 0 untranslated region of the MSX1 gene, may contribute to the agenesis of maxillary lateral incisors when present in a homozygous state. Moreover, a significant interactive genetic effect of intronic polymorphisms in MSX1 (rs3775261) and transforming growth factor, alpha (TGFA) (rs3771494) on MLIA susceptibility has been found (29).…”

Section: Discussionmentioning

confidence: 99%

WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies

Mostowska

Biedziak

Zadurska

et al. 2014

European J Oral Sciences

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Congenital maxillary lateral incisor agenesis (MLIA) is one of the most common subtypes of dental agenesis. Because little is known with regard to the aetiology of this anomaly, the aim of the study was to determine the contribution of nucleotide variants in wingless-type MMTV integration site family, member 10A (WNT10A), msh homeobox 1 (MSX1), and paired box 9 (PAX9) to the risk of MLIA in a Polish population. Coding regions of the selected genes were analysed by direct sequencing in a group of 20 individuals with unilateral and bilateral MLIA, associated or not with other dental anomalies. The frequencies of the identified nucleotide variants were assessed in an additional cohort of patients with isolated dental agenesis (n = 147) and in 178 controls. Mutation screening showed four non-synonymous substitutions located in the highly conserved coding sequence of WNT10A in five (25%) of the 20 patients. Analysis of genotyping results revealed that three of these variants--p.Arg113Cys, p.Phe228Ile, and the newly identified p.Arg171Leu--may represent aetiological mutations underlying MLIA with associated dental anomalies. No mutations that were potentially aetiologic were identified in MSX1 and PAX9. In conclusion, this is the first report implicating coding variants in the WNT10A gene in the aetiology of MLIA. These results will require further confirmation using larger-scale studies.

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“…Upper lateral incisors or lower second premolars are the most teeth commonly involved in hypodontia [1,4]. In this research, missing of lateral incisors can be seen in patient 1D.…”

Section: Resultsmentioning

confidence: 67%

“…Hypodontia involved missing of one to six teeth, excluding the third molar. Tooth agenesis can either be non-syndromic (isolated condition) or syndromic (associated with congenital anomalies [1]. Tooth agenesis is caused by the genetic and environmental factors.…”

Section: Introductionmentioning

confidence: 99%

Identification of MSX1 Mutation in Malaysian Hypodontia Family

Zamil¹,

Yussof²,

Ardini³

et al. 2018

Proceedings of the International Dental Conference of Sumatera Utara 2017 (IDCSU 2017)

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Abstract-Hypodontia is defined as the absence of one to six teeth. There is high prevalence of hypodontia recorded in Malaysia (2.8%). This study aimed to identify any mutation of MSX1 in Malaysian family with hypodontia and its clinical finding. We re-examined 4 individuals from a family of the previous PAX9 study. Orthophantomogram (OPG) and intraoral photos were re-assessed. Saliva was collected for genetic analysis. Direct sequencing was done on exons 1 and 2 of MSX1. 2 out of 4 members (1A and 1D) in the family have anterior hypodontia. Point mutation on exon1 of MSX1 (c.731G>A) was observed in 1A (father) with missing 13 and 23 and 1C (carrier-son). c.732G>A was found on exon1 of MSX1 of his daughter (1D) with missing 32.MSX1 mutation is involved in the occurrence of hypodontia in patient.

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Polymorphism in the MSX1 gene in a family with upper lateral incisor agenesis

Cited by 14 publications

References 28 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

WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies

Identification of MSX1 Mutation in Malaysian Hypodontia Family

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