From ectodermal dysplasia to selective tooth agenesis

Mues, Gabriele; Griggs, Rachel; Hartung, Andrew J.; Whelan, Greg; Best, Lyle G.; Srivastava, Anand; D’Souza, Rena N.

doi:10.1002/ajmg.a.32801

Cited by 27 publications

(25 citation statements)

References 19 publications

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“…Similar phenotypes are also described in patients with mutations in the EDA receptor (EDAR) gene or, in rare cases, the downstream signaling mediator EDAR-associated death domain (EDARADD) gene [Headon et al, 2001;Chassaing et al, 2006Chassaing et al, , 2010Bailleul-Forestier et al, 2008b;Mikkola 2009]. Mutations in the EDA and EDAR genes have also been shown to cause isolated hypodontia [Tao et al, 2006;Fan et al, 2008;Han et al, 2008;Rasool et al, 2008;Azeem et al, 2009;Mues et al, 2009a;Nieminen, 2009;Song et al, 2009].The aim of the present study was to investigate a cohort of young, unrelated individuals with isolated oligodontia for the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes as well as in the novel candidate gene EDARADD. We also searched for genotype-phenotype correlations in carriers of mutations.…”

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confidence: 71%

“…In this study we used a population-based approach to clarify the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, EDAR, and EDARADD genes in non-syndromic oligodontia. Mutations in these genes have previously been associated with either isolated oligodontia [Mues et al, 2009a] or hypohidrotic ED involving teeth and other ectodermal derivatives [Mikkola, 2009]. The cohort comprised 93 unrelated Swedish young people with oligodontia.…”

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confidence: 99%

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Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

Bergendal¹,

Klar²,

Stecksén‐Blicks³

et al. 2011

American J of Med Genetics Pt A

130

104

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Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electrophoresis and DNA sequence analysis. Analyses of the coding sequences of the six genes showed sequence alterations predicted to be damaging or potentially damaging in ten of 93 probands (10.8%). Mutations were identified in the EDARADD (n = 1), AXIN2 (n = 3), MSX1 (n = 2), and PAX9 (n = 4) genes, respectively. None of the 10 probands with mutations had other self-reported symptoms from ectodermal tissues. The oral parameters were similar when comparing individuals with and without mutations but a family history of oligodontia was three times more frequent for probands with mutations. EDARADD mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an EDARADD mutation associated with isolated oligodontia.

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mentioning

confidence: 71%

mentioning

confidence: 99%

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

Bergendal¹,

Klar²,

Stecksén‐Blicks³

et al. 2011

American J of Med Genetics Pt A

130

104

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Section: Prosthodontic Management Of Children With Ectodermal Dysplasmentioning

confidence: 99%

“…EDAR binds specifically the A1 isoform of EDA (EDA-A1) but not the EDA-A2 isoform that utilizes a distinct receptor. Autosomal HED may also be caused by mutation in a cytosolic, EDAR-specific adapter molecule named EDAR-associated death domain (EDARADD) [17,18,21,22].The EDA, EDAR and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm.…”

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confidence: 99%

Prosthodontic Management of Children with Ectodermal Dysplasia: Review of Literature

Grover¹,

Mehra²

2015

Dentistry

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Prosthodontic Management of Children with Ectodermal Dysplasia: Review of LiteratureRashu Grover and Manjul Mehra* Department of Pedodontics and Preventive Dentistry, Sri Guru Ram Das Institute of Dental Sciences and Research, Amritsar, India gene was located to Xq 12-13 by Zonana et al. [20]. Autosomal forms of HED are due to mutation in the EDA receptor (EDAR). EDAR binds specifically the A1 isoform of EDA (EDA-A1) but not the EDA-A2 isoform that utilizes a distinct receptor. Autosomal HED may also be caused by mutation in a cytosolic, EDAR-specific adapter molecule named EDAR-associated death domain (EDARADD) [17,18,21,22].The EDA, EDAR and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. It is essential for the formation of several structures that arises from ectoderm, including the skin, hair, nails teeth and sweat glands. Mutation in these genes prevents normal interaction between the ectoderm and mesoderm and impairs the normal development of hair, sweat glands and the teeth [7,8]. The improper formation of these ectodermal structures leads to the characteristic features of HED. In rare cases, HED is associated with immune deficiency caused by mutations in further downstream components of the EDA pathway that are necessary for the activation of the transcription factor NFkappa b [18][19][20]23,24]. Clinical ManifestationsHypohidrosis is possibly the most remarkable characteristic of ED because it may not be the apparent in the first year of life but present later as a fever of unknown origin. The inability to sweat results in intolerance to heat, occasionally causing hyperpyrexia after mild exertion or even after a simple meal [25]. Resultant high fevers may lead to seizures and other neurological sequelae. This is one of the most common causes of mortality with a 30% rate in infancy and early childhood [26]. Other problems associated are pharyngitis, rhinitis, cheilitis and dysphagia may result from decreased number of mucous glands in the respiratory and gastrointestinal tracts [27] ClassificationThere are several classifications given by different authors. Some are based on clinical features and others on genetic component of the disorder [7,8]. Clinically there are two major types of ED namely hidrotic and anhidrotic (hypohidrotic form). The hidrotic form, inherited as an autosomal trait, affects teeth, hair and nails but usually spares the sweat glands and was first described by Clouston in 1929 [9]. Whereas the hypohidrotic form (Christ-Siemens-Touraine Syndrome) is most common type seems to be an X-linked recessive trait, with an incidence of this syndrome estimated to be 1 to 7 per 10,000 live births [10,11]. Hypodontia, hypotrichosis and hypohidrosis which form a triad are the characteristic feature of the hypohidrotic form [12,13].Other attempts at classifying EDs were proposed later [2,4,7,14,15]. ...

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“…Malfunction in any part of this system or at any point during development of ectodermal structures can lead to a variety of phenotypically distinctive entities which we classify as the ectodermal dysplasia syndromes. 1 …”

Section: Introductionmentioning

confidence: 99%

Ectodermal Dysplasia: A Genetic Review

Deshmukh

Prashanth

2012

International Journal of Clinical Pediatric Dentistry

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Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder.How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.

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From ectodermal dysplasia to selective tooth agenesis

Cited by 27 publications

References 19 publications

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

Prosthodontic Management of Children with Ectodermal Dysplasia: Review of Literature

Ectodermal Dysplasia: A Genetic Review

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