Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes

Keskin, Gül; Karaer, Kadri; Gündoğar, Zübeyde Uçar

doi:10.1007/s00056-021-00284-4

Cited by 8 publications

(6 citation statements)

References 33 publications

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“…Palatal eruption of maxillary lateral incisors in this study had a percentage that is not much different from impaction, this is in accordance with research conducted by Agnieszka Lasota and Tarac M, Cirakoglu N which states that the common tooth malposition in cleft lip and palate is the eruption of the palatal eruption of the lateral incisor. 17,24,43,44 The most common type of malformation of the maxillary lateral incisors found in this study is the peg shape, with an average percentage of 10%, which is consistent with the research conducted by da Cas NV, Machado RA, Coletta R, Della and Rangel in the journal Patterns of dental anomalies in patients with Patterns of dental anomalies in patients with nonsyndromic oral clefts. Common malformations in cleft lip and palate are peg-shaped lateral incisors maxilla.…”

Section: Discussionsupporting

confidence: 91%

Relationship of complete unilateral and bilateral cleft palate with malposition and malformation of maxillary lateral incisors

Pratiwi,

Soewondo,

Chemiawan

et al. 2024

IJOHD

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Cleft palate is a facial deformity that allows primary and permanent teeth to be affected by anomalies such as malpositions and malformations. The lateral incisors are the most commonly affected in patients with cleft palate. The diagnosis of malposition and dental malformation is established through history taking, clinical examination, and diagnostic evaluation in the form of study models, clinical photos, and panoramic radiographs. The aim of this study was to analyze the relationship between complete unilateral and bilateral cleft palate and maxillary lateral incisor malposition and malformation. The research method is analytic cross-sectional, with the research sample consisting of 35 primary data from clinical examinations and secondary data from panoramic radiographs of pediatric patients 5-13 years old at YPPCBL RSGM Padjadjaran University, Bandung. This study looked at the clinical condition of dental anomalies and the interpretation of panoramic radiographs. Data were analyzed using Kendall Concordal analysis and Spearman rank correlation. The results showed that the impaction is the most common type of maxillary lateral incisor malposition found in complete unilateral and bilateral cleft palate. Peg shape is the most common type of maxillary lateral incisor malformation found in complete unilateral cleft palate. The highest rate of maxillary lateral incisor agenesis was found in bilateral complete cleft palate compared to complete unilateral clefts. There is a relationship between complete unilateral and bilateral cleft palate, which was statistically significant at 78% with p-value = 5.69E-32 <0.05. The conclusion of the study is there is a relationship between the unilateral cleft palate; and bilateral complete with malposition and malformation of maxillary lateral incisors.

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Section: Discussionsupporting

confidence: 91%

Relationship of complete unilateral and bilateral cleft palate with malposition and malformation of maxillary lateral incisors

Pratiwi,

Soewondo,

Chemiawan

et al. 2024

IJOHD

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“…We summarized and analyzed the genotype–phenotype relationships of NSTA caused by MSX1 variants reported in 1996–2022 (Abid et al., 2017; Adachi et al., 2021; AlFawaz et al., 2015; Arte et al., 2013; Bergendal et al., 2011; Biedziak et al., 2022; Bonczek et al., 2018; Ceyhan et al., 2014; Chishti et al., 2006; Daw et al., 2017; De Muynck et al., 2004; Kamamoto et al., 2011; Keskin et al., 2022; Kim et al., 2006; Kimura et al., 2014; Ma et al., 2020; Mitsui et al., 2016; Mostowska et al., 2006, 2012; Mu et al., 2013; Şahan & Akan, 2021; Tatematsu et al., 2015; Vastardis et al., 1996; Wong et al., 2014; Xin et al., 2018; Xuan et al., 2008; Xue et al., 2016; Yamaguchi et al., 2014; Yang et al., 2020; Yue et al., 2022; Zheng et al., 2021). In brief, we identified 46 patients with 44 MSX1 variants, including the patients in this study (Table S1).…”

Section: Resultsmentioning

confidence: 99%

Characterization of novel MSX1 variants causally associated with non‐syndromic oligodontia in Chinese families

Zhao,

Ren,

Meng

et al. 2023

Molec Gen & Gen Med

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BackgroundMSX1 (OMIM #142983) is crucial to normal dental development, and variants in MSX1 are associated with dental anomalies. The objective of this study was to characterize the pathogenicity of novel MSX1 variants in Chinese families with non‐syndromic oligodontia (NSO).MethodsGenomic DNA was extracted from individuals representing 35 families with non‐syndromic oligodontia and was analyzed by Sanger sequencing and whole‐exome sequencing. Pathogenic variants were screened via analyses involving PolyPhen‐2, Sorting‐Intolerant from Tolerant, and MutationTaster, and conservative analysis of variants. Patterns of MSX1‐related NSO were analyzed. MSX1 structural changes suggested functional consequences in vitro.ResultsThree previously unreported MSX1 heterozygous variants were identified: one insertion variant (c.576_577insTAG; p.Gln193*) and two missense variants (c. 871T>C; p.Tyr291His and c. 644A>C; p.Gln215Pro). Immunofluorescence analysis revealed abnormal subcellular localization of the p.Gln193* MSX1 variant. In addition, we found that these MSX1 variants likely lead to the loss of second premolars.ConclusionThree novel MSX1 variants were identified in Chinese Han families with NSO, expanding the MSX1 variant spectrum and presenting a genetic origin for the pathogenesis detected in patients and their families.

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“…com/article/10.3390/jpm11111217/s1, Figure S1: Family 1 and a WNT10A p.(Arg113His) mutation; S1: Panel of 966 genes associated craniofacial development and anomalies; Table S2: Known LRP6 mutations associated with FTA. References [39][40][41][42][43][44][45][46][47] are cited in the supplementary materials.…”

Section: Supplementary Materialsmentioning

confidence: 99%

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

Chu

Wang

Chou

et al. 2021

JPM

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Familial tooth agenesis (FTA), distinguished by developmental failure of selected teeth, is one of the most prevalent craniofacial anomalies in humans. Mutations in genes involved in WNT/β-catenin signaling, including AXIN2 WNT10A, WNT10B, LRP6, and KREMEN1, are known to cause FTA. However, mutational interactions among these genes have not been fully explored. In this study, we characterized four FTA kindreds with LRP6 pathogenic mutations: p.(Gln1252*), p.(Met168Arg), p.(Ala754Pro), and p.(Asn1075Ser). The three missense mutations were predicted to cause structural destabilization of the LRP6 protein. Two probands carrying both an LRP6 mutant allele and a WNT10A variant exhibited more severe phenotypes, suggesting mutational synergism or digenic inheritance. Biallelic LRP6 mutations in a patient with many missing teeth further supported the dose-dependence of LRP6-associated FTA. Analysis of 21 FTA cases with 15 different LRP6 loss-of-function mutations revealed high heterogeneity of disease severity and a distinctive pattern of missing teeth, with maxillary canines being frequently affected. We hypothesized that various combinations of sequence variants in WNT-related genes can modulate WNT signaling activities during tooth development and cause a wide spectrum of tooth agenesis severity, which highlights the importance of exome/genome analysis for the genetic diagnosis of FTA in this era of precision medicine.

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Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes

Cited by 8 publications

References 33 publications

Relationship of complete unilateral and bilateral cleft palate with malposition and malformation of maxillary lateral incisors

Relationship of complete unilateral and bilateral cleft palate with malposition and malformation of maxillary lateral incisors

Characterization of novel MSX1 variants causally associated with non‐syndromic oligodontia in Chinese families

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

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