An Insight into the Genesis of Hypohidrotic Ectodermal Dysplasia in a Case Report

Kumar, Kiran; Shetty, Devi Charan; Dua, Mahima; Dua, Amit; Dhanapal, Raghu

doi:10.1155/2012/281074

Cited by 5 publications

(12 citation statements)

References 12 publications

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“…The most common phenotypes of ED are hidrotic, also known as Clouston syndrome, and hypohidrotic (anhidrotic), which is also known as Christ-Siemens-Touraine syndrome [5]. The most common phenotype is hypohidrotic ED (HED), which is characterized by abnormal development of the teeth (anodontia or hypo dontia), hair (hypotrichosis), and sweat glands (anhidrosis or hypohidrosis) [2,6].…”

Section: Classificationmentioning

confidence: 99%

“…The dental manifestations of HED include abnormal crown formation (conical shape or pegged teeth), delayed eruption of the permanent teeth, hypoplastic labial frenum, and a wide midline diastema in the autosomal recessive form. Other clinical features of HED include frontal bossing, prominent supraorbital ridges, depression of the nasal bridge and midface, prominent and obliquely set ears, protuberant lips, and a lack of alveolar bone development causing the lower third of the face to appear small [5]. There are three types of HED: (1) autosomal recessive, (2) autosomal dominant, and (3) X-linked HED (XLHED) [7].…”

Section: Classificationmentioning

confidence: 99%

“…HED is caused by mutations in any of the three ectodysplasin pathway genes: (1) ectodysplasin A (EDA), which encodes a ligand for the (2) EDA receptor (EDAR), and (3) the EDAR-associated death domain (EDARADD), which encodes an intracellular signaling mediator of this single linear pathway [5]. A new gene, WNT10A, was recently identified and suggested as one of the genes responsible for the various autosomal recessive forms of ED [8].…”

Section: Etiology and Prevalencementioning

confidence: 99%

“…A new gene, WNT10A, was recently identified and suggested as one of the genes responsible for the various autosomal recessive forms of ED [8]. In rare cases, mutations in further downstream Advances in Health Sciences Research, volume 4 components of the EDA pathway cause a form of HED that is associated with immune deficiency [5].…”

Section: Etiology and Prevalencementioning

confidence: 99%

“…The prevalence of HED is estimated at one case for every 17,000 persons worldwide [5]. According to McKusick, any form of ED is rare with an incidence of approximately seven cases per 10,000 births [9].…”

Section: Etiology and Prevalencementioning

confidence: 99%

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Ectodermal Dysplasia

Katthika¹,

Auerkari²

2018

Proceedings of the 11th International Dentistry Scientific Meeting (IDSM 2017)

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Primary defects in the development of two or more ectoderm-derived tissues are shared by a rare heterogeneous group of inherited disorders called ectodermal dysplasia (ED) syndrome. The affected tissues are primarily the hair, skin, teeth, sweat glands, and nails. The most common phenotype of ED is hypohidrotic ED (HED), which is characterized by hypohidrosis/anhidrosis, hypotrichosis, and hypodontia/anodontia. Other clinical features of HED include frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. There are three subtypes of HED: autosomal recessive, autosomal dominant, and Xlinked. Mutations to four genes (EDA, EDAR, EDARADD, and WNT10A) are responsible for most cases of ED. Besides gene mutations, epigenetics also influences gene expression and activity in ED syndrome. DNA methylation and histone modification are vital to the epigenetic regulation of the development of female carriers of the X-linked subtype of HED.

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Section: Classificationmentioning

confidence: 99%

Section: Classificationmentioning

confidence: 99%

Section: Etiology and Prevalencementioning

confidence: 99%

Section: Etiology and Prevalencementioning

confidence: 99%

Section: Etiology and Prevalencementioning

confidence: 99%

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Ectodermal Dysplasia

Katthika¹,

Auerkari²

2018

Proceedings of the 11th International Dentistry Scientific Meeting (IDSM 2017)

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A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia

et al. 2019

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Purpose Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes. We report on a novel ectodysplasin-A ( EDA ) mutation that is expected to be involved in pathogenesis of HED. Methods Hypohidrotic ectodermal dysplasia genes, including EDA , EDAR and EDARADD , were analyzed using next-generation sequencing (NGS). The detected mutation on the EDA gene was confirmed in the patient and his mother using Sanger sequencing. Results The patient presented with adontia, absence of gum development, hyperthermia and hypohidrosis. Our genetic analysis of the patient revealed a novel frameshift hemizygous mutation (c.898_924 + 8del35ins4CTTA) on the EDA gene. The patient’s mother showed a mild HED phenotype. Direct sequencing of the EDA gene in the region where her son had the mutation showed the same mutation in a heterozygous state. Conclusion We identified a novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked HED. The difference between our patient’s symptoms and those recorded for some previous subjects may be due to the differences in the mutations involved. Electronic supplementary material The online version of this article (10.1186/s11658-019-0174-9) contains supplementary material, which is available to authorized users.

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