A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia

Xu, Weiming; Zhang, Zhe; Yuan, Shuo; Ren, Jiabao; Qu, Hong; Zhang, Guozhong; Chen, Wenjing; Zheng, Shushen; Meng, Lingqiang; Bai, Jiuping; Du, Qingqing; Yang, Dongru; Weishou, Shen

doi:10.1097/md.0000000000019244

Cited by 10 publications

(14 citation statements)

References 28 publications

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“…EDA is a type II membrane protein that can be cleaved by furin to produce a secreted form (10)(11)(12), which is subsequently recognized by the ectodysplasin A receptor (10,(13)(14)(15). EDA acts as a homotrimer and plays an important role in the development of ectodermal tissues such as skin (16,17). EDA, along with c-Met, has also been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in vertebrates (18).…”

Section: Introductionmentioning

confidence: 99%

Ectodysplasin A Is Increased in Non-Alcoholic Fatty Liver Disease, But Is Not Associated With Type 2 Diabetes

et al. 2021

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Ectodysplasin A (EDA) was recently identified as a liver-secreted protein that is increased in the liver and plasma of obese mice and causes skeletal muscle insulin resistance. We assessed if liver and plasma EDA is associated with worsening non-alcoholic fatty liver disease (NAFLD) in obese patients and evaluated plasma EDA as a biomarker for NAFLD. Using a cross-sectional study in a public hospital, patients with a body mass index >30 kg/m2 (n=152) underwent liver biopsy for histopathology assessment and fasting liver EDA mRNA. Fasting plasma EDA levels were also assessed. Non-alcoholic fatty liver (NAFL) was defined as >5% hepatic steatosis and nonalcoholic steatohepatitis (NASH) as NAFLD activity score ≥3. Patients were divided into three groups: No NAFLD (n=45); NAFL (n=65); and NASH (n=42). Liver EDA mRNA was increased in patients with NASH compared with No NAFLD (P=0.05), but not NAFL. Plasma EDA levels were increased in NAFL and NASH compared with No NAFLD (P=0.03). Plasma EDA was related to worsening steatosis (P=0.02) and fibrosis (P=0.04), but not inflammation or hepatocellular ballooning. ROC analysis indicates that plasma EDA is not a reliable biomarker for NAFL or NASH. Plasma EDA was not increased in patients with type 2 diabetes and did not correlate with insulin resistance. Together, we show that plasma EDA is increased in NAFL and NASH, is related to worsening steatosis and fibrosis but is not a reliable biomarker for NASH. Circulating EDA is not associated with insulin resistance in human obesity.Clinical Trial Registrationhttps://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?ACTRN=12615000875505, identifier ACTRN12615000875505.

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Section: Introductionmentioning

confidence: 99%

Ectodysplasin A Is Increased in Non-Alcoholic Fatty Liver Disease, But Is Not Associated With Type 2 Diabetes

et al. 2021

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“… 5 Together, these genes are responsible for EDA production, a critical signalling protein in embryogenesis that discerns the ectoderm and mesoderm. 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 The ectoderm–mesoderm interactions form the basis for development of skin, hair, nails, teeth and sweat glands. While HIED comprises several distinct features, pulmonary complications are frequent.…”

Section: Discussionmentioning

confidence: 99%

“…The genetic inheritance of HIEDs depends on the underlying genetic anomaly with X‐linked inheritance associated with the ectodysplasin A (EDA, locus Xq12‐q13.1, encoding ligand EDA‐A1) gene and autosomal inheritance with EDA receptor (EDAR) and EDAR‐associated death domain protein (EDARADD) 5 . Together, these genes are responsible for EDA production, a critical signalling protein in embryogenesis that discerns the ectoderm and mesoderm 6–13 . The ectoderm–mesoderm interactions form the basis for development of skin, hair, nails, teeth and sweat glands.…”

Section: Discussionmentioning

confidence: 99%

ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review

Thornton

Puttagunta

Helmersen

et al. 2021

Respirology Case Reports

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Ectodermal dysplasias (EDs) are a heterogeneous rare group of disorders with an incidence at 1/100,000 live births. Currently, there are limited case reports of patients requiring lung transplantation. Here, we report two brothers who present with a constellation of features including alopecia, nail dystrophy, ophthalmic complications, thyroid disease, hypohidrosis, ephelides, enteropathy and recurrent respiratory tract infections, known as ANOTHER syndrome, a rare autosomal recessive variant of ED. Both presented in early childhood with progressive respiratory decline and eventual failure. Chronic respiratory decline was refractory to standard therapy. Both patients required lung transplantation for sequelae of end‐stage lung disease. Pathology demonstrated multifocal bronchiectasis with areas of fibrosis and small airway obstruction. ANOTHER syndrome is rare with a paucity of data in the literature. Given the limited therapeutic options available with natural progression towards respiratory failure, lung transplantation may be considered.

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“…The condition will be delineated into two forms mainly, known as (HED) hypohidrotic or anhydrotic (Christ-Siemens-Touraine syndrome) where endocrine glands are absent or markedly diminished and hydrotic (Clouston syndrome) with normal endocrine glands. The two types show similarities in the involvement of teeth and hair, although the nails and sweat glands show a different pattern [2,15,16] . HED is the most frequent of all dysplasias and brings with it hypodontia, hypohidrosis and hypotrichosis and presents an infant mortality rate between 2 and 20%, all this is going to depend on the precocity of diagnosis and treatment protocols [4, 11-13, 17, 18] .…”

Section: Etiologymentioning

confidence: 99%

“…This gene tends to encode ectodysplasin, which is usually a molecule involved in epithelial-mesenchymal communication during the skin development process. Other genes that can be associated with this dysplasia are the EDAR, EDARADD and WNT10A genes, where it will present a recessive or dominant inheritance pattern [16,[27][28][29] . Studies have shown that the hypohidrotic subtype is X-linked.…”

Section: Geneticsmentioning

confidence: 99%

Ectodermal dysplasia, an odontological point of view

Flores-Ibarra¹,

Trevinño-Tijerina²,

Leal-Camarillo³

et al. 2021

Int. J. Appl. Dent. Sci.

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Introduction: Ectodermal dysplasia (ED) consists of rare genetic disorders in which it is mainly characterized by abnormalities of tissues derived mainly from the ectoderm, sometimes tissues of mesodermal origin. It has a frequency of one in 17,000 births, mainly males. Objective: To analyze the literature on ectodermal dysplasia and its application in dentistry. To investigate information on etiology, genetics, general and oral manifestations, and its treatment. Methodology: A research search was carried out in PubMed, PMC and Google Scholar with the words ¨ectodermal dysplasia¨, ¨genetics¨, ¨oral manifestations¨, ¨treatment¨ and ¨clinical manifestations¨. Results: The factor of ED was found to be of genetic origin. The mutations are X-linked. The most affected structures are the skin, hair and nails; this is due to its ectodermal origin. The oral manifestations can appear in the shape of the teeth, size, number of teeth present and can even affect the normal development of the alveolar ridge. The use of removable prosthesis and the placement of implants are the most applied treatments to improve the conditions of the patients. Conclusions: The most affected structures are those of ectodermal origin; while in the oral cavity we can present a partial absence of the dentition, together with alterations of the alveolar bone structures and even patients can come to suffer from cleft palate and cleft lip. There is no specific treatment, but to treat the affections presented by means of implants and prosthesis.

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A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia

Cited by 10 publications

References 28 publications

Ectodysplasin A Is Increased in Non-Alcoholic Fatty Liver Disease, But Is Not Associated With Type 2 Diabetes

Ectodysplasin A Is Increased in Non-Alcoholic Fatty Liver Disease, But Is Not Associated With Type 2 Diabetes

ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review

Ectodermal dysplasia, an odontological point of view

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