Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

Noor, Abdul; Windpassinger, Christian; Vitcu, Irina; Orlic, Marija; Rafiq, Muhammad; Khalid, Muhammad Shoaib; Malik, Mahmood Nasir; Ayub, Muhammad; Alman, Benjamin A.; Vincent, John B.

doi:10.1016/j.ajhg.2009.03.007

Cited by 81 publications

(74 citation statements)

References 18 publications

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“…La oligodoncia se define como la ausencia congénita de más de seis dientes en la dentición primaria y/o permanente y es considerada como una anomalía del desarrollo dental que comúnmen-te, se encuentra asociada a síndromes y alteraciones sistémicas. 1 Existen diversos tipos entre los cuales están la agenesia dental de uno o más dientes que puede ser hipodoncia si existe ausencia de menos de seis dientes, 2 suele presentarse en forma aislada y, por lo general, no se asocia con otra anomalía. El otro tipo es la oligodoncia que se refiere a ausencia de seis o más dientes sin tener en cuenta los terceros molares, puede ser una entidad aislada en la que el paciente no presenta ninguna otra alteración asociada.…”

Section: Introductionunclassified

“…En otras ocasiones, la oligodoncia puede estar asociada con algún síndrome y se vincula con defectos en piel, ojos, oídos y esqueleto lo que también se conoce como Agenesia Dental Selectiva (STHAG) que se considera una de las anomalías más comunes de la dentición humana. [1][2][3][4] Algunos autores, clasifican la oligodoncia de la siguiente manera:…”

Section: Introductionunclassified

“…Dentro de los factores causales generales de la oligodoncia se propone el traumatismo local, infección durante el desarrollo dental, quimioterapia o radioterapia, disfunción glandular, raquitismo, sífilis, sarampión durante el embarazo y disturbios intrauterinos severos, entre los más importantes. 2,7 En lo referente a factores hereditarios se consideran las enfermedades sindró-micas que se relacionan con esta alteración.…”

Section: Introductionunclassified

“…7 Estas mutaciones pueden ocurrir en los genes: MSX1, PAX9 (factor de transcripción juega un papel crítico en la odontogénesis), LTBP3. 2,11,14 Se ha demostrado que la forma esporádica no sindrómica de oligodoncia dental familiar se asocia con mutaciones en MSX1 y productos PAX9.…”

Section: Introductionunclassified

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Oligodoncia: Reporte De Un Caso Clínico

et al. 2012

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RESUMENLas anomalías dentales son alteraciones que se producen durante la odontogénesis en la se afecta la forma, el tamaño, la disposición, el grado de desarrollo y el número de los dientes. Dentro de estas anomalías de número, la agenesia dental se presenta con frecuencia. La oligodoncia se caracteriza por la ausencia congénita de más de seis dientes y puede presentarse en la dentición primaria y permanente; se asocia comúnmente con síndromes o algunas alteraciones sistémicas. Los terceros molares son los dientes mayormente afectados, seguidos por los segundos premolares inferiores y los incisivos laterales superiores. Esta entidad es más común en mujeres y en el maxilar inferior. En el presente artículo se reporta el caso de una joven de 13 años de edad quien acude a la Clínica de Odontopediatría de la Universidad Nacional Autónoma de México con ausencia congénita de los órganos dentales del 12,17,18, 22, 27,28, 35, 37,38,45, 47 y 48. Dicha ausencia no se asoció con algún tipo de síndrome que tenga dentro de sus características la ausencia dental. Por tal motivo, se estableció un diagnóstico presuntivo de oligodoncia no sindrómica verdadera y se planteó llevar a cabo un tratamiento que cumplía con las necesidades que el caso requiera mediante la interacción multidisciplinaria de diferentes especialidades odontológicas. OLIGODONTIA: A CASE REPORT ABSTRACTDental anomalies are disorders that can occur during odontogenesis (initiation and proliferation of the dental lamina),in which it affects the shape, the size, layout, degree of development and number of the teeth. Within these anomalies of number, dental agenesis one of those that occur most frequently within the population and there are several types among them: dental agenesis of one or more teeth that can be hypodontia (absence of less than six teeth), or oligodontia (absence of six or more teeth, excluding third molars). Oligodontia is a tooth developmental disorder characterized by congenital absence of more than six teeth and can occur in the primary and permanent dentition and it is commonly associated with certain systemic disorders or syndromes. The third molars are the most affected teeth within this disorder, followed by the second lower premolars and upper lateral incisors. It is usual in the female population and in the mandibular region. The present paper reports the case of a 13 year -old patient, who attended to the Pediatric Dental Clinic of the Universidad Nacional Autónoma de México with congenital absence of the following dental organs 12, 17, 18, 22, 27, 28, 35, 36, 37, 38, 45, 47 and 48. This absence was not associated with any type of syndrome. Therefore, a presumptive diagnosis of non-syndromic oligodontia was established and it was considered to perform a treatment by a multidisciplinary team of different dental specialities. INTRODUCCIÓNEn los últimos años ha aumentado la frecuencia de oligodoncia al afectar a una gran parte de la población mundial. La oligodoncia se define como la ausencia congénita de más de seis dientes en la de...

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Section: Introductionunclassified

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Oligodoncia: Reporte De Un Caso Clínico

et al. 2012

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“…This gene is located on chromosome 11q12 [82]. This gene has been found to be the causal factor in a Pakistani family showing autosomal recessive form of familial oligodontia [83]. …”

Section: Axin2 Genementioning

confidence: 99%

Single Nucleotide Polymorphism (SNPs) in the Genes Associated with Tooth Agenesis

Shahid¹,

Joshi²,

Alqhtani³

et al. 2018

Eur J Exp Bio

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Objectives: The main focus of this review article was to collate up to date knowledge with regard to significance of single nucleotide polymorphisms (SNPs) in various genes associated with tooth agenesis. Failure to develop complete set of teeth also called tooth agenesis is a common developmental abnormality manifested mainly as an isolated condition. This anomaly is also associated with many developmental syndromes. Methods:We reviewed the evidence from the literature with regard to SNPs in many genes associated with this developmental anomaly. The information contained in this review deals only with non-syndromic form of tooth agenesis. This condition generally affects third molars or one or few other permanent teeth, however, in some cases its severity is relatively prevalent. Results and Conclusions:Mutations in genes such as Msh homeobox 1 (MSX1), Paired box gene 9 (PAX9), Axis inhibitor protein 2 (AXIN2) and Ectodysplasin A (EDA) have been identified that are associated with the familial form of the disease. It has been shown that the phenotypes associated with these mutations indicate the involvement of more complex mechanisms.Clinical Significance: Evidence collected so far has immense clinical significance to clinical dentists in providing comprehensive guide outlining the role of these gene mutations (SNPs) in various genes and also how the patients affected with this condition will be clinically diagnosed and managed in future.

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Dental Anomalies: Genetics

Nieminen

2013

Encyclopedia of Life Sciences

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Development of teeth is under strict genetic control, which ensures the formation and renewal of a certain number of teeth with specific shapes and positions in a reproducible timetable. Gene mutations can disturb normal dental development and affect tooth number, shape, eruption or formation of the hard tissues, enamel, dentin or cementum. These anomalies are often observed as isolated, that is, only dentition is affected, and especially failure to develop all teeth, tooth agenesis or hypodontia is extremely common. Different dental anomalies are also observed in numerous rare developmental syndromes because the genes and genetic networks that regulate tooth morphogenesis and differentiation are also active in the development of other organs and tissues. Tooth anomalies are especially associated with other ectodermal defects and orofacial clefts. Many examples indicate that teeth are often most sensitive to a reduced activity of a specific genetic pathway which is related to the complexity and self‐organising features of dental development. Key Concepts: Teeth are specialised ectodermal organs. Development of dentition is regulated by cell interactions by same signalling pathways that are active in other organs and requires modulation of signalling by antagonist factors. Tooth agenesis (failure to develop all teeth) is one of the most common developmental anomalies. Most cases of tooth agenesis and supernumerary teeth are caused by reduced rather than complete inactivation of gene activity. Dental anomalies are often diagnostic indications of a heritable syndrome or systemic disease. Dental hard tissues do not regenerate after an injury and their development involve unique mechanisms. Studies into congenital enamel defects are revealing functions for novel proteins that are involved in cellular regulation in ameloblasts and other cells.

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Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

Cited by 81 publications

References 18 publications

Oligodoncia: Reporte De Un Caso Clínico

Oligodoncia: Reporte De Un Caso Clínico

Single Nucleotide Polymorphism (SNPs) in the Genes Associated with Tooth Agenesis

Dental Anomalies: Genetics

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