Genetischer Hintergrund nonsyndromaler Oligodontien – ein systematisches Review mit Metaanalyse

Ruf, Sabine; Klimas, Dana; Hönemann, Mario; Jabir, Sarah

doi:10.1007/s00056-013-0138-z

Cited by 42 publications

(30 citation statements)

References 73 publications

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“…Those studies indicated the genes, such as PAX9, EDA, MSX1, AXIN2, EDARADD, NEMO, and KRT17 (Ruf et al, 2013), that affect tooth formation. However, mutations of these genes are not related to the prevalence of CL/P, and there is a difference in the distribution and prevalence of hypodontia between the subjects with and without CL/P.…”

mentioning

confidence: 97%

A Longitudinal Study of the Presence of Dental Anomalies in the Primary and Permanent Dentitions of Cleft Lip and/or Palate Patients

Suzuki

Nakano²,

Yoshizaki

et al. 2017

The Cleft Palate Craniofacial Journal

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confidence: 97%

A Longitudinal Study of the Presence of Dental Anomalies in the Primary and Permanent Dentitions of Cleft Lip and/or Palate Patients

Suzuki

Nakano²,

Yoshizaki

et al. 2017

The Cleft Palate Craniofacial Journal

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“…Earlier, mutations in the PAX9 gene had been identified in association with oligodontia in a family affected with agenesis of most of the permanent molars and a variable absence of second premolars and mandibular incisors (20). Patients with PAX9 gene mutations have not been reported to have an increased risk of syndromic diseases or abnormalities other than oligodontia (21). In addition, PAWLOWSKA et al (22) sequenced fragments of the PAX9 gene in 38 individuals with different types of tooth agenesis and in 100 controls.…”

Section: Pax9 Mutation In Oligodontiamentioning

confidence: 99%

A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene

Šerý

Bonczek

Hloušková

et al. 2015

European J Oral Sciences

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Tooth agenesis is one of the most common developmental anomalies in humans. To date, many mutations involving paired box 9 (PAX9), msh homeobox 1 (MSX1), and axin 2 (AXIN2) genes have been identified. The aim of the present study was to perform screening for mutations and/or polymorphisms using the capillary sequencing method in the critical regions of PAX9 and MSX1 genes in a group of 270 individuals with tooth agenesis and in 30 healthy subjects of Czech origin. This screening revealed a previously unknown heterozygous g.9527G>T mutation in the PAX9 gene in monozygotic twins with oligodontia and three additional affected family members. The same variant was not found in healthy relatives. This mutation is located in intron 2, in the region recognized as the splice site between exon 2 and intron 2. We hypothesize that the error in pre-mRNA splicing may lead to lower expression of PAX9 protein and could have contributed to the development of tooth agenesis in the affected subjects.

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“…As genetic factors have been identified as the major etiology of tooth agenesis, variants in several genes have been reported to be associated with STA, including PAX9 (paired box gene 9), MSX1 (muscle segment homeobox 1), AXIN2 (axis inhibition protein 2), WNT10A (wingless‐type MMTV integration site family, member 10A), WNT10B (wingless‐type MMTV integration site family, member 10B), EDA (ectodysplasin‐A), EDARADD (edar‐associated death domain), LRP 6 (low‐density lipoprotein receptor‐related protein 6), and LTBP3 (latent TGF‐b‐binding protein 3). (Bergendal, Klar, Stecksén‐Blicks, Norderyd, & Dahl, ; Lammi et al, ; Massink et al, ; Noor et al, ; Ruf, Klimas, Honemann, & Jabir, ; Song et al, ; Stockton, Das, Goldenberg, D'Souza, & Patel, ; Vastardis, Karimbux, Guthua, Seidman, & Seidman, ; Wong et al, ; Yu et al, ).…”

Section: Introductionmentioning

confidence: 99%

Novel mutations identified in patients with tooth agenesis by whole‐exome sequencing

et al. 2018

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Objectives To identify potentially pathogenic mutations for tooth agenesis by whole‐exome sequencing. Subjects and Methods Ten Chinese families including five families with ectodermal dysplasia (syndromic tooth agenesis) and five families with selective tooth agenesis were included. Whole‐exome sequencing was performed using genomic DNA. Potentially pathogenic mutations were identified after data filtering and screening. The pathogenicity of novel variants was investigated by segregation analysis, in silico analysis, and functional studies. Results One novel mutation (c.441_442insACTCT) and three reported mutations (c.252delT, c.463C>T, and c.1013C>T) in EDA were identified in families with ectodermal dysplasia. The novel EDA mutation was co‐segregated with phenotype. A functional study revealed that NF‐κB activation was compromised by the identified mutations. The secretion of active EDA was also compromised detection by western blotting. Novel Wnt10A mutations (c.521T>C and c.653T>G) and EVC2 mutation (c.1472C>T) were identified in families with selective tooth agenesis. The Wnt10A c.521T>C mutation and the EVC2 c.1472C>T mutation were considered as pathogenic for affecting highly conserved amino acids, co‐segregated with phenotype and predicted to be disease‐causing by SIFT and PolyPhen2. Moreover, several reported mutations in PAX9, Wnt10A, and FGFR3 were also detected. Conclusions Our study expanded our knowledge on tooth agenesis spectrum by identifying novel variants.

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Genetischer Hintergrund nonsyndromaler Oligodontien – ein systematisches Review mit Metaanalyse

Cited by 42 publications

References 73 publications

A Longitudinal Study of the Presence of Dental Anomalies in the Primary and Permanent Dentitions of Cleft Lip and/or Palate Patients

A Longitudinal Study of the Presence of Dental Anomalies in the Primary and Permanent Dentitions of Cleft Lip and/or Palate Patients

A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene

Novel mutations identified in patients with tooth agenesis by whole‐exome sequencing

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