A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

Cañueto, Javier; Zafra-Cobo, M.I.; Ciria, S.; Unamuno, P.; González‐Sarmiento, Rogelio

doi:10.1016/j.adengl.2011.11.012

Cited by 3 publications

(4 citation statements)

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“…X-linked HED (XLHED) is X-linked recessive or X-linked intermediate. Hemizygous male patients are often more severely affected, while heterozygous females show normal or moderate features [Cañueto et al, 2011].…”

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confidence: 99%

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

Savasta

Carlone

Castagnoli

et al. 2017

Cytogenet Genome Res

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We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

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confidence: 99%

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

Savasta

Carlone

Castagnoli

et al. 2017

Cytogenet Genome Res

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“…Nail dysplasia was observed in one male with HED and in two females, but not in other heterozygous carriers. Some studies have suggested that the variability in the phenotype of XLHED is associated with different mutations in the EDA gene [13,14]. The genetic variability in this condition may lead to variability in its characteristics, including different dental phenotypes [26].…”

Section: Discussionmentioning

confidence: 99%

“…The gene responsible for XLHED is localized at Xq12-q13.1 that is associated with the EDA gene, which codes for a transmembrane protein that is expressed by keratinocytes, hair follicles, teeth, and sweat glands. This gene may play a key role in epithelial-mesenchymal signaling, leading to the clinical aspects of the disorder [5,[12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Orofacial features of hypohidrotic ectodermal dysplasia

2012

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene. The aim of this case report was to describe a family with XLHED with emphasis on differences in orofacial features between members. Family members were systematically evaluated to characterize the pattern of inheritance and clinical features. Dental examination included evaluation of agenesis and abnormal teeth structure. The pedigree of the last seven generations of the family was constructed. Clinical examination and medical history revealed five males affected by HED and nine female as heterozygous carriers. The males exhibited the classic phenotype of XLHED, with dental abnormalities, hypohydrosis, and craniofacial dysmorphologies. The heterozygous carriers of the X-linked gene defect principally exhibited dental agenesis of the lateral maxillary incisors. Careful clinical examination, including dental evaluation, is an important way to detect heterozygous carriers of X-linked HED. Heterozygous parents of patients with HED may also show some features of the disorder. The identification of female carriers results in genetic counseling being offered to affected families, as well as providing adequate treatment as necessary and long-term follow-up of these patients.

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“…Up to 70 % of heterozygous female carriers of pathogenic variants in the EDA gene demonstrate one or more disorders: some degree of hypotrichosis, reduced sweating, missing one or more teeth, underdevelopment of the mammary glands, or problems with breastfeeding -the latter, however, can only be fully assessed after puberty or pregnancy, respectively (Wahlbuhl-Becker et al, 2017;Wohlfart et al, 2020). Moreover, even within the same family, there is a certain variability in the phenotype (Cañueto et al, 2011;. Cases of selective tooth agenesis (OMIM 313500) of the X-linked mode of inheritance, which were also caused by pathogenic variants in the EDA gene, are described.…”

Section: Molecular Basis and Genetics Of Hypohidrotic Ectodermal Dysp...mentioning

confidence: 99%

Molecular basis and genetics of hypohidrotic ectodermal dysplasias

Kovalskaia,

Cherevatova,

Polyakov

et al. 2023

Vestn. VOGiS

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Ectodermal dysplasia (ED) is a heterogeneous group of hereditary diseases of the skin and its appendages, which are characterized by impaired development and/or homeostasis of two or more ectoderm derivatives, including: hair, teeth, nails, sweat glands and their modifications (mammary glands, for instance). The overall prevalence of ectodermal dysplasia remains precisely unknown not only in Russia, but also in the world, nor is known the contribution of individual genes to its structure. This complicates the DNA diagnosis establishment of this disease due to the lack of an accurate diagnostic algorithm and a universal cost-effective method of analysis. To date, the most highly-researched genes involved in the development of anhydrous or hypohidrotic forms of ED are EDA, EDAR, EDARADD and WNT10A. The ectodysplasin A (EDA) gene is the cause of the most common X-linked form of ED, a gene from the Wnt family (WNT10A) is responsible for the autosomal recessive form of the disease, and two other genes (EDAR and EDARADD) can cause both autosomal recessive and autosomal dominant forms. This review provides the characteristics of the genes involved in ED, their mutation spectra, the level of their expression in human tissues, as well as the interrelation of the aforementioned genes. The domain structures of the corresponding proteins are considered, as well as the molecular genetic pathways in which they are involved. Animal models for studying this disorder are also taken into consideration. Due to the cross-species genes conservation, their mutations cause the disruption of the development of ectoderm derivatives not only in humans, but also in mice, cows, dogs, and even fish. It can be exploited for a better understanding of the etiopathogenesis of ectodermal dysplasias. Moreover, this article brings up the possibility of recurrent mutations in the EDA and WNT10A genes. The review also presents data on promising approaches for intrauterine ED treatment.

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A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

Cited by 3 publications

References 6 publications

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel <b><i>EDA</i></b> Gene Mutation

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel <b><i>EDA</i></b> Gene Mutation

Orofacial features of hypohidrotic ectodermal dysplasia

Molecular basis and genetics of hypohidrotic ectodermal dysplasias

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