外胚层发育不全发病机理及诊断的研究进展

Abstract

Abstract: Ectodermal dysplasia (ED) is a group of congenital genetic diseases caused by ectodermal structural hypoplasia, including hydrotic ectodermal dysplasia and hypohidrotic ectodermal dysplasia (HED).The phenotypical manifestations of this disease are obvious in male patients, while female patients usually have no clinical symptoms or only partial symptoms.In this review we describe the diagnosis, pathogenesis and clinical intervention of the disease.

Key words: ectodermal dysplasia, EDA, genetic diagnosis

Ping WANG. Research progress on the pathogenesis and diagnosis of ectodermal dysplasia[J]. Oral Biomedicine, 2022, 13(2): 130-134.

References 36

[1]	Moura E, Rotenberg I S, Pimpao C T. X-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities[J]. Topics In Companion Animal Medicine,2019,35;11-17.
[2]	Trzeciak W H, Koczorowski R. Molecular basis of hypohidrotic ectodermal dysplasia: an update[J]. Journal Of Applied Genetics,2016,57(1);51-61.
[3]	Mikkola M L. Molecular Aspects of Hypohidrotic Ectodermal Dysplasia[J]. American Journal Of Medical Genetics Part A,2009,149A(9);2031-2036.
[4]	Mikkola M L. TNF superfamily in skin appendage development[J]. Cytokine & Growth Factor Reviews,2008,19(3-4);219-230.
[5]	Kowalczyk-Quintas C, Schneider P. Ectodysplasin A (EDA) - EDA receptor signalling and its pharmacological modulation[J]. Cytokine & Growth Factor Reviews,2014,25(2);195-203.
[6]	Li S, Zhou J, Zhang L, et al. Ectodysplasin A regulates epithelial barrier function through sonic hedgehog signalling pathway[J]. Journal Of Cellular And Molecular Medicine,2018,22(1);230-240.
[7]	Kere J, Srivastava A K, Montonen O, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.[J]. Nature Genetics,1996,13(4);409-416.
[8]	Giardino G, Cirillo E, Gallo V, et al. B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand[J]. Clinical Immunology,2015,161(2);131-135.
[9]	Mukaibo T, Munemasa T, Masaki C, et al. Defective NaCl Reabsorption in Salivary Glands of Eda-Null X-LHED Mice[J]. Journal Of Dental Research,2018,97(11);1244-1251.
[10]	Li S, Zhou J, Bu J, et al. Ectodysplasin A protein promotes corneal epithelial cell proliferation[J]. Journal Of Biological Chemistry,2017,292(32);13391-13401.
[11]	Yin W, Ye X, Fan H, et al. Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers[J]. Plos One,2013,8(e622034).
[12]	Shen L, Liu C, Gao M, et al. Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female[J]. Journal Of Dermatology,2019,46(8);731-733.
[13]	Chaudhary A K, Mohapatra R, Nagarajaram H A, et al. The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia[J]. Journal Of The European Academy Of Dermatology And Venereology,2017,31(1);E17-E20.
[14]	Okita T, Asano N, Yasuno S, et al. Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia[J]. Journal Of Dermatology,2019,46(8);710-715.
[15]	Boisson B, Honda Y, Ajiro M, et al. Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency[J]. Journal Of Clinical Investigation,2019,129(2);583-597.
[16]	Petersheim D, Massaad M J, Lee S, et al. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency[J]. Journal Of Allergy And Clinical Immunology,2018,141(3);1060.
[17]	Fusco F, Pescatore A, Conte M I, et al. EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG/NEMO Mutation Affecting the NF-kappa B Pathway Can Cause Immunodeficiency and/or Inflammation[J]. International Reviews Of Immunology,2015,34(6);445-459.
[18]	Dinella J D, Chen J, Webb S, et al. A Human Stem Cell-Based System to Study the Role of TP63 Mutations in Ectodermal Dysplasias[J]. Journal Of Investigative Dermatology,2018,138(7);1662-1665.
[19]	Aberdam E, Roux L N, Secretan P, et al. Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1(MET)/APR-246[J]. Cell Death & Disease,2020,11(301).
[20]	Qu J, Tanis S E J, Smits J P H, et al. Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape[J]. Cell Reports,2018,25(12);3490.
[21]	Kurban M, Zeineddine S B, Hamie L, et al. FOXI2: a possible gene contributing to ectodermal dysplasia[J]. European Journal Of Dermatology,2017,27(6);641-645.
[22]	Florian R, Gruber R, Volc-Platzer B. A novel homozygous mutation in PVRL4 causes ectodermal dysplasia- syndactyly syndrome 1[J]. International Journal Of Dermatology,2018,57(2);223-226.
[23]	Valentin M N, Solomon B D, Richard G, et al. Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia[J]. American Journal Of Medical Genetics Part A,2018,176(11);2451-2455.
[24]	Yang R, Hu Z L, Kong Q T, et al. A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia[J]. Journal Of The European Academy Of Dermatology And Venereology,2016,30(8);1362-1365.
[25]	Lian J, Cuk M, Kahlfuss S, et al. ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency[J]. Journal Of Allergy And Clinical Immunology,2018,142(4);1297.
[26]	Parveen A, Khan S A, Mirza M U, et al. Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and SyndromicTooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations[J]. International Journal Of MolecularSciences,2019,20(528221).
[27]	Zeng B, Zhao Q, Li S, et al. Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.[J]. Genes,2017,8(10).
[28]	Reyes-Reali J, Isabel Mendoza-Ramos M, Garrido-Guerrero E, et al. Hypohidrotic ectodermal dysplasia: clinical and molecular review[J]. International Journal Of Dermatology,2018,57(8);965-972.
[29]	Wu T, Yin B, Zhu Y, et al. First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth[J]. Clinica Chimica Acta,2017,475;78-84.
[30]	Schneider H, Faschingbauer F, Schuepbach-Mallepell S, et al. Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia[J]. New England Journal Of Medicine,2018,378(17);1604-1610.
[31]	Margolis C A, Schneider P, Huttner K, et al. Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia Using Recombinant Ectodysplasin in a Canine Model[J]. Journal Of Pharmacology And Experimental Therapeutics,2019,370(3SI);806-813.
[32]	Del-Pozo J, Macintyre N, Azar A, et al. Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia[J]. Disease Models & Mechanisms,2019,12(dmm0378044).
[33]	Barbaro V, Nasti A A, Del Vecchio C, et al. Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function[J]. Stem Cells,2016,34(6);1588-1600.
[34]	Kaercher T, Dietz J, Jacobi C, et al. Diagnosis of X-Linked Hypohidrotic Ectodermal Dysplasia by Meibography and Infrared Thermography of the Eye[J]. Current Eye Research,2015,40(9);884-890.
[35]	Hammersen J, Wohlfart S, Goecke T W, et al. Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography[J]. Prenatal Diagnosis,2019,39(9);796-805.
[36]	Rossi A, Miraglia E, Fortuna M C, et al. Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia[J]. Journal Of The European Academy Of Dermatology And Venereology,2017,31(2);367-370.

Research progress on the pathogenesis and diagnosis of ectodermal dysplasia

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