Sequence analysis of candidate genes in two Roma families with severe tooth agenesis

Selective tooth agenesis is the most common congenital disorder affecting the formation of dentition in humans. Both its forms (hypodontia and more severe oligodontia) can be found either in isolated form and they can be associated with systemic condition (syndromic tooth agenesis). In addition to previously known genes (PAX9, MSX1 and AXIN2) mutations in EDA, EDARADD and WNT10 gene were recently found to be involved in isolated forms of tooth agenesis. The objective of this study was to characterize the phenotype of affected members in two large families of Roma origin segregating severe isolated tooth agenesis with very variable phenotype and to perform mutation analysis of seven genes with aim to find causal mutation. 26 family members were clinically examined and coding regions of seven genes (MSX1, PAX9, AXIN2, EDA, EDAR, EDARADD and WNT10A) were sequenced. With exclusion of third molars, average number of missing teeth was 8.2 ? 4.9 in family 1 and 7.1 ? 2.3 in family 2. The most frequently missing teeth were maxillary lateral incisors and first premolars and mandibular central incisors. Sequencing revealed four potentially damaging variants (g.Ala40Gly in MSX1, g.Ala240Pro in PAX9, g.Pro50Ser in AXIN2 and g.Met9Ile in EDARADD); however, none of them was present in all affected family members. Variable phenotype in both families examined in this study is in favour of heterogeneous genetic cause of tooth agenesis in these families: possible interaction of several defected genes, sequence variants in regulatory regions and additional environmental factors is assumed.

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HYPODONTIA WITH CLASS I MALLOCLUSION AND MAXILLARY DIASTEMA

Indonesian Journal of Dental Medicine ◽

10.20473/ijdm.v1i2.2018.98-101 ◽

2018 ◽

Vol 1 (2) ◽

pp. 98

Author(s):

Bunga Fatimah ◽

I Gusti Aju Wahju Ardani

Keyword(s):

Case Management ◽

Class I ◽

Tooth Agenesis ◽

Third Molars ◽

Missing Teeth ◽

Facial Aesthetics ◽

The Third ◽

Congenitally Missing Teeth ◽

Congenitally Missing ◽

Severe Type

Background: Dental agenesis is a term that refers to the absence of one or more teeth, and hypodontia refers to a severe type of tooth agenesis involving less than six or more than one congenitally missing teeth, excluding the third molars. Purpose: This aimed to report the correction of overbite by using intrusion archwires. Case: A 20-year-old female patient had class I malocclusion and deep overbite, incisor retroclination, mild mandibular crowding and agenesis of 12, 13, 14, 15, and 24. Case management: The case was treated with non-extraction using 0.022 pre-adjusted technique to level and unravel using intrusion archwires to correct the deep overbite. Conclusion: The 17-month treatment resulted in a corrected overbite, good occlusion, and good facial aesthetics.

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Non-syndromic oligodontia Report of a clinical case with 14 missing teeth

Bangladesh Journal of Medical Science ◽

10.3329/bjms.v10i3.8365 ◽

1970 ◽

Vol 10 (3) ◽

pp. 200-202 ◽

Cited By ~ 2

Author(s):

NB Nagaveni ◽

KV Umashankara ◽

NB Radhika ◽

TS Satisha

Keyword(s):

Key Words ◽

Present Article ◽

Clinical Case ◽

Permanent Teeth ◽

Tooth Agenesis ◽

Third Molars ◽

Missing Teeth ◽

Organ Systems ◽

Exact Etiology ◽

And Function

Oligodontia (severe partial anodontia) is a rare developmental dental anomaly refers to congenital lack of more than six teeth. Most often oligodontia appears as part of some congenital syndromes that affects several organ systems. The exact etiology for oligodontia is unknown. Management includes various restorative and orthodontic procedures to improve the esthetics and function. The present article reports a case of oligodontia of 14 number of permanent teeth excluding third molars in a non-syndromic female patient. Key words: oligodontia; hypodontia, partial anodontia, tooth agenesis. DOI: http://dx.doi.org/10.3329/bjms.v10i3.8365 BJMS 2011; 10(3): 200-202

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Third molar tooth agenesis and pattern of impaction in patients with palatally displaced canines

The Angle Orthodontist ◽

10.2319/031318-203.1 ◽

2018 ◽

Vol 89 (1) ◽

pp. 64-70

Author(s):

Elham S. Abu Alhaija ◽

Fedaa T. Wazwaz

Keyword(s):

Third Molar ◽

Control Group ◽

Tooth Agenesis ◽

Third Molars ◽

Missing Teeth ◽

Control Groups ◽

Third Molar Agenesis ◽

High Prevalence ◽

The Difference ◽

And Control

ABSTRACT Objectives: To investigate the association between third molar agenesis and pattern of impaction, missing teeth, and peg-shaped lateral incisor with palatal canine displacement (PDC). Materials and Methods: The pretreatment orthodontic orthopantomograms of 438 patients (122 males and 316 females) diagnosed with PDC were included. A total of 338 patients with normally erupted canines who had a preexisting radiograph as part of their orthodontic treatment (125 males and 313 females) served as controls. Orthopantomograms were evaluated for missing third molars, third molar eruption status, and type of impaction, third molar spaces, third molar width, and angulation. Results: In the PDC group, at least one third molar was missing in 48% and 19% in the upper and lower arches, respectively. Also, 38% and 67% of PDC patients had at least one third molar impaction in the upper and lower arches, respectively. The difference between the PDC and control groups was significant for both missing and impacted third molars (P < .001 for each). The most common type of third molar impaction in the upper arch was vertical and distoangular in the PDC and control groups, respectively. Upper and lower third molar width and spaces were reduced in PDC patients when compared with the control group (P < .001). In PDC patients, missing teeth and peg-shaped lateral incisors were recorded in 5.6% and 9.1%, respectively. Conclusions: PDC patients showed a high prevalence of third molar agenesis and impaction. Upper and lower third molar width and space were reduced in the PDC patients. There were no significant associations between tooth agenesis (other than third molars) and the PDC anomaly.

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Anti–USAG-1 therapy for tooth regeneration through enhanced BMP signaling

Science Advances ◽

10.1126/sciadv.abf1798 ◽

2021 ◽

Vol 7 (7) ◽

pp. eabf1798

Author(s):

A. Murashima-Suginami ◽

H. Kiso ◽

Y. Tokita ◽

E. Mihara ◽

Y. Nambu ◽

...

Keyword(s):

Tooth Development ◽

Bmp Signaling ◽

Tooth Agenesis ◽

Tooth Regeneration ◽

Missing Teeth ◽

Morphogenetic Protein ◽

Genetic Abnormalities ◽

Direct Binding ◽

Tooth Germs ◽

Lipoprotein Receptor Related Protein

Uterine sensitization–associated gene-1 (USAG-1) deficiency leads to enhanced bone morphogenetic protein (BMP) signaling, leading to supernumerary teeth formation. Furthermore, antibodies interfering with binding of USAG-1 to BMP, but not lipoprotein receptor–related protein 5/6 (LRP5/6), accelerate tooth development. Since USAG-1 inhibits Wnt and BMP signals, the essential factors for tooth development, via direct binding to BMP and Wnt coreceptor LRP5/6, we hypothesized that USAG-1 plays key regulatory roles in suppressing tooth development. However, the involvement of USAG-1 in various types of congenital tooth agenesis remains unknown. Here, we show that blocking USAG-1 function through USAG-1 knockout or anti–USAG-1 antibody administration relieves congenital tooth agenesis caused by various genetic abnormalities in mice. Our results demonstrate that USAG-1 controls the number of teeth by inhibiting development of potential tooth germs in wild-type or mutant mice missing teeth. Anti–USAG-1 antibody administration is, therefore, a promising approach for tooth regeneration therapy.

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Genetic and Molecular Characterization of the Maizerp3Rust Resistance Locus

Genetics ◽

10.1093/genetics/162.1.381 ◽

2002 ◽

Vol 162 (1) ◽

pp. 381-394 ◽

Cited By ~ 6

Author(s):

Craig A Webb ◽

Todd E Richter ◽

Nicholas C Collins ◽

Marie Nicolas ◽

Harold N Trick ◽

...

Keyword(s):

Family Members ◽

Crossing Over ◽

Resistance Locus ◽

Leucine Rich Repeat ◽

Bac Contig ◽

Puccinia Sorghi ◽

Coding Regions ◽

Complex Locus ◽

Sequence Identities

AbstractIn maize, the Rp3 gene confers resistance to common rust caused by Puccinia sorghi. Flanking marker analysis of rust-susceptible rp3 variants suggested that most of them arose via unequal crossing over, indicating that rp3 is a complex locus like rp1. The PIC13 probe identifies a nucleotide binding site-leucine-rich repeat (NBS-LRR) gene family that maps to the complex. Rp3 variants show losses of PIC13 family members relative to the resistant parents when probed with PIC13, indicating that the Rp3 gene is a member of this family. Gel blots and sequence analysis suggest that at least 9 family members are at the locus in most Rp3-carrying lines and that at least 5 of these are transcribed in the Rp3-A haplotype. The coding regions of 14 family members, isolated from three different Rp3-carrying haplotypes, had DNA sequence identities from 93 to 99%. Partial sequencing of clones of a BAC contig spanning the rp3 locus in the maize inbred line B73 identified five different PIC13 paralogues in a region of ∼140 kb.

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MSX1, PAX9, and TGFA Contribute to Tooth Agenesis in Humans

Journal of Dental Research ◽

10.1177/154405910408300913 ◽

2004 ◽

Vol 83 (9) ◽

pp. 723-727 ◽

Cited By ~ 89

Author(s):

A.R. Vieira ◽

R. Meira ◽

A. Modesto ◽

J.C. Murray

Keyword(s):

Dna Sequence ◽

Cleft Lip ◽

Dna Analysis ◽

Ethnically Diverse ◽

Tooth Agenesis ◽

Single Strand Conformational Polymorphism ◽

Coding Regions ◽

Cleft Lip Palate ◽

Transmission Distortion ◽

Polymerase Chain

In this study, we sought to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 and PAX9 in an ethnically diverse human population. Since cleft lip/palate is also associated with both tooth agenesis and the gene TGFA, we included TGFA in the analysis as well. Cheek swab samples were obtained for DNA analysis from 116 case/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. Genotyping was performed by single-strand conformational polymorphism or kinetic polymerase chain-reaction assays. Transmission distortion of the marker alleles and DNA sequence analysis was performed. Results showed that tooth agenesis is associated with markers of the genes MSX1 and TGFA. No mutations were found in MSX1 or PAX9 coding regions. There were statistically significant data suggesting that MSX1 interacts with PAX9. These findings suggest that MSX1, PAX9, and TGFA play a role in isolated dental agenesis.

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Non-Syndromic Tooth Agenesis: Pattern And Distribution In Permanent Dentition Among IIUM Dental Polyclinic Patient

IIUM Medical Journal Malaysia ◽

10.31436/imjm.v16i2.1084 ◽

2017 ◽

Vol 16 (2) ◽

Author(s):

Nurul Hasyiqin Fauzi ◽

Widya Lestari ◽

Azrul Fazwan Kharuddin ◽

Yunita Dewi Ardini

Keyword(s):

Third Molar ◽

Permanent Dentition ◽

Posterior Region ◽

Tooth Agenesis ◽

Missing Teeth ◽

Male And Female ◽

Single Tooth ◽

The Right ◽

Missing Tooth

Introduction: Non-syndromic tooth agenesis defined as developmental absence of more than one tooth that appears as independent congenital oral trait. Its prevalence, pattern and distribution rates vary by populations. The aim of this study was to identify the pattern and distribution of tooth agenesis in permanent dentition among IIUM dental polyclinic patients. Materials and Methods: 3481 patients aged 12 to 60 years who attended IIUM Dental Polyclinic from April 2016 until April 2017 was evaluated. 33 hypodontia and 2 oligodontia were ruled out. Patients were required to undergo clinical and radiographic examinations. Results: On an average, two teeth were missing per patients. Excluding third molar, the prevalence of population under study was 1.005%. Half of the total cases showed missing a single tooth (45.7%), whereas the others ranged from two until nine. The most common missing tooth in maxillary and/or mandibular are lateral incisors (28%) followed by second premolars (26.67%) and first premolars (25.33%). There was no significance difference in missing tooth between male and female (p=0.48). More missing teeth identified at maxilla (54.67%) compared to mandible (45.33%). More teeth were found missing on the right side (54.67%), on the posterior region (53.33%) and also unilaterally (71.42%). Tooth anomalies such as peg-shaped tooth (8.57%) and microdontia (5.71%) were found in some cases. Conclusion(s): In conclusion, mild hypodontia is considered as the most common tooth agenesis. The prevalence studied population was less than the previous studies in Malaysia and lateral incisors were identified as the most common missing tooth.

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