Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross‐sectional study

Ngọc, Võ Trương Như; Dương, Nguyễn Thùy; Chu, Dinh‐Toi; Hang, Luong Minh; Viet, Do Hoang; Duc, Nguyen Minh; Anh, Le Quynh; Son, Tong Minh; Can, Do Van; Nga, Vu Bich

doi:10.1111/cge.13435

Cited by 3 publications

(4 citation statements)

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“…In family 1, whole-exome and Sanger sequencing revealed a mutation (c.1127 C > T), in the TNF homology subdomain that converts a cytosine to thymine, and the corresponding amino acid is changed from threonine to methionine (p.T376M). We also found a reported pathogenic mutation (c.1133 C > T) (Wang et al, 2014;Ngoc et al, 2018) in family 1 by Sanger sequencing, but it was the same mutation as c.1127 C > T in different transcripts. Since the TNF homology subdomain plays a key role in the ligand homotrimerization and receptor binding, the EDA gene may be unable to bind to its ligand (EDAR) in members of this family.…”

Section: Discussionmentioning

confidence: 59%

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis

et al. 2020

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Background: This study aimed to investigate the genetic causes of hypohidrotic ectodermal dysplasia (HED) in two families and elucidate the molecular pathogenesis of HED in Chinese Han patients.Methods: Whole-exome sequencing (WES) was used to screen HED-related genes in two family members, followed by confirmatory Sanger sequencing. Bioinformatics analysis was performed for the mutations. We reviewed HED-related articles in PubMed. c 2 -and Fisher's tests were used to analyze the genotype-phenotype correlations.

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Section: Discussionmentioning

confidence: 59%

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis

et al. 2020

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“…Guzzarrotti et al (2015) reported an overall hypodontia prevalence of 97.5% for 40 males. Ngoc et al () reported severe partial anodontia in all males studied but did not provide any further clarification.…”

Section: Resultsmentioning

confidence: 85%

“…Only three studies reported on either hair growth or effects on hairline for males, and one study reported information on both for females. Ngoc et al () reported that all males ( n = 8) had slow growing, fragile and light‐colored hair but did not provide further details. Jones et al () reported that of 12 males, 100% had drastically slower growth of hairs compared to controls ( p = .0001), but the amount of hairs that were in growth phase were similar to controls.…”

Section: Resultsmentioning

confidence: 99%

The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review

Anbouba

Carmany

Natoli

2020

American J of Med Genetics Pt A

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The objective of this study was to review the published literature on X‐linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis. A systematic search of English‐language articles was conducted in May 2019 to identify publications with information on any of the three features of XLHED. We excluded studies with five or fewer participants, that did not specify X‐linked inheritance or an EDA mutation, and discussed only management of features. The weighted means for total missing teeth, location of missing teeth, prevalence of reduced and absent sweating ability, and sparse or absent hair were analyzed across all studies. Additional findings for hypodontia, hypohidrosis, and hypotrichosis were summarized qualitatively. Twenty publications (18 studies) were accepted. Reported findings for males tended to be more informative than for carrier females. The weighted mean for missing teeth for affected males was 22.4 (range: 10–28) and carrier females was 3.4 (range: 0–22). The most common conserved teeth for males were the canines. The most common missing teeth for females were the maxillary lateral incisors. The weighted mean prevalence of reduced or absent sweating ability was 95.7% for males and 71.6% for females. The weighted mean prevalence for hypotrichosis was 88.1% for males and 61.6% for females. This systematic review provides insight into the prevalence, characteristics, and variability of the three classic features of XLHED. These findings provide detailed natural history information for families with XLHED as well as key characteristics that can aid in diagnosis.

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“…More than 170 types of ED have been described, of which X-linked HED or AED is the most common, depending on the secretion of perspiration [ 16 ]. The incidence of HED or AED is 1:17,000 in live births [ 17 ], but N. Ngoc et al reported that the prevalence of HED is only 1:1,000,000 in the general population [ 18 ]. 92 % of these patients have at least one gene mutation in EDA, EDAR, EDARADD and WNT10A [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

Activation of wnt/β-catenin signaling pathway down regulated osteogenic differentiation of bone marrow-derived stem cells in an anhidrotic ectodermal dysplasia patient with EDA/EDAR/EDARADD mutation

Bao,

Yang,

Tong

et al. 2024

Heliyon

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Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross‐sectional study

Cited by 3 publications

References 4 publications

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis

The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review

Activation of wnt/β-catenin signaling pathway down regulated osteogenic differentiation of bone marrow-derived stem cells in an anhidrotic ectodermal dysplasia patient with EDA/EDAR/EDARADD mutation

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