Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases
Summary Background Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X‐linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases. Autosomal dominant and recessive forms occasi...
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Veröffentlicht in: | British journal of dermatology (1951) 2010-05, Vol.162 (5), p.1044-1048 |
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container_title | British journal of dermatology (1951) |
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creator | Chassaing, N. Cluzeau, C. Bal, E. Guigue, P. Vincent, M-C. Viot, G. Ginisty, D. Munnich, A. Smahi, A. Calvas, P. |
description | Summary
Background Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X‐linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases. Autosomal dominant and recessive forms occasionally occur and result from mutations in at least two other genes: EDAR and EDARADD. EDARADD interacts with the TAB2/TRAF6/TAK1 complex, which is necessary for NF‐κB activation by EDAR.
Objectives To determine frequency of EDARADD, TRAF6, TAB2 and TAK1 mutations in HED.
Materials and methods We have screened 28 familial or sporadic HED cases with no mutations in the EDA and EDAR genes for EDARADD, TRAF6, TAB2 and TAK1 mutations.
Results We identified one EDARADD 6‐bp homozygous in‐frame deletion (c.402‐407del, p.Thr135‐Val136del) in a patient born to consanguineous parents. Functional studies showed that the p.Thr135‐Val136del impaired the EDAR–EDARADD interaction and then severely inhibited NF‐κB activity. In the remaining 27 patients, we failed to find causative mutations in EDARADD, or in TRAF6, TAB2 or TAK1.
Conclusions Our study demonstrates that EDARADD mutations are not a frequent cause of HED, while mutations in TRAF6, TAB2 and TAK1 may not be implicated in this disease. |
doi_str_mv | 10.1111/j.1365-2133.2010.09670.x |
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Background Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X‐linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases. Autosomal dominant and recessive forms occasionally occur and result from mutations in at least two other genes: EDAR and EDARADD. EDARADD interacts with the TAB2/TRAF6/TAK1 complex, which is necessary for NF‐κB activation by EDAR.
Objectives To determine frequency of EDARADD, TRAF6, TAB2 and TAK1 mutations in HED.
Materials and methods We have screened 28 familial or sporadic HED cases with no mutations in the EDA and EDAR genes for EDARADD, TRAF6, TAB2 and TAK1 mutations.
Results We identified one EDARADD 6‐bp homozygous in‐frame deletion (c.402‐407del, p.Thr135‐Val136del) in a patient born to consanguineous parents. Functional studies showed that the p.Thr135‐Val136del impaired the EDAR–EDARADD interaction and then severely inhibited NF‐κB activity. In the remaining 27 patients, we failed to find causative mutations in EDARADD, or in TRAF6, TAB2 or TAK1.
Conclusions Our study demonstrates that EDARADD mutations are not a frequent cause of HED, while mutations in TRAF6, TAB2 and TAK1 may not be implicated in this disease.</description><identifier>ISSN: 0007-0963</identifier><identifier>EISSN: 1365-2133</identifier><identifier>DOI: 10.1111/j.1365-2133.2010.09670.x</identifier><identifier>PMID: 20222921</identifier><identifier>CODEN: BJDEAZ</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adaptor Proteins, Signal Transducing - genetics ; Adult ; Amino Acid Sequence ; Animals ; Base Sequence ; Biological and medical sciences ; Dermatology ; DNA Mutational Analysis - methods ; Ectodermal Dysplasia - genetics ; Ectodermal Dysplasia - metabolism ; EDA ; EDAR ; Edar-Associated Death Domain Protein - genetics ; EDARADD ; Facial bones, jaws, teeth, parodontium: diseases, semeiology ; Female ; Genetic Predisposition to Disease ; Hair and nails disorders ; Humans ; hypohidrotic ectodermal dysplasia ; MAP Kinase Kinase Kinases - genetics ; Medical sciences ; Mice ; Molecular Sequence Data ; Mutation ; NF-kappa B - metabolism ; NF-κB ; Non tumoral diseases ; Otorhinolaryngology. Stomatology ; Sequence Alignment ; Skin involvement in other diseases. Miscellaneous. General aspects ; Species Specificity ; TNF Receptor-Associated Factor 6 - genetics ; Zebrafish</subject><ispartof>British journal of dermatology (1951), 2010-05, Vol.162 (5), p.1044-1048</ispartof><rights>2010 The Authors. Journal Compilation © 2010 British Association of Dermatologists</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4190-49111aedaa0b3f1ea5afb78f23fb0b12b5d51b103c4eb0c7ff76f6e2162594c83</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1365-2133.2010.09670.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2133.2010.09670.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22763940$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20222921$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chassaing, N.</creatorcontrib><creatorcontrib>Cluzeau, C.</creatorcontrib><creatorcontrib>Bal, E.</creatorcontrib><creatorcontrib>Guigue, P.</creatorcontrib><creatorcontrib>Vincent, M-C.</creatorcontrib><creatorcontrib>Viot, G.</creatorcontrib><creatorcontrib>Ginisty, D.</creatorcontrib><creatorcontrib>Munnich, A.</creatorcontrib><creatorcontrib>Smahi, A.</creatorcontrib><creatorcontrib>Calvas, P.</creatorcontrib><title>Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases</title><title>British journal of dermatology (1951)</title><addtitle>Br J Dermatol</addtitle><description>Summary
Background Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X‐linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases. Autosomal dominant and recessive forms occasionally occur and result from mutations in at least two other genes: EDAR and EDARADD. EDARADD interacts with the TAB2/TRAF6/TAK1 complex, which is necessary for NF‐κB activation by EDAR.
Objectives To determine frequency of EDARADD, TRAF6, TAB2 and TAK1 mutations in HED.
Materials and methods We have screened 28 familial or sporadic HED cases with no mutations in the EDA and EDAR genes for EDARADD, TRAF6, TAB2 and TAK1 mutations.
Results We identified one EDARADD 6‐bp homozygous in‐frame deletion (c.402‐407del, p.Thr135‐Val136del) in a patient born to consanguineous parents. Functional studies showed that the p.Thr135‐Val136del impaired the EDAR–EDARADD interaction and then severely inhibited NF‐κB activity. In the remaining 27 patients, we failed to find causative mutations in EDARADD, or in TRAF6, TAB2 or TAK1.
Conclusions Our study demonstrates that EDARADD mutations are not a frequent cause of HED, while mutations in TRAF6, TAB2 and TAK1 may not be implicated in this disease.</description><subject>Adaptor Proteins, Signal Transducing - genetics</subject><subject>Adult</subject><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Dermatology</subject><subject>DNA Mutational Analysis - methods</subject><subject>Ectodermal Dysplasia - genetics</subject><subject>Ectodermal Dysplasia - metabolism</subject><subject>EDA</subject><subject>EDAR</subject><subject>Edar-Associated Death Domain Protein - genetics</subject><subject>EDARADD</subject><subject>Facial bones, jaws, teeth, parodontium: diseases, semeiology</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Hair and nails disorders</subject><subject>Humans</subject><subject>hypohidrotic ectodermal dysplasia</subject><subject>MAP Kinase Kinase Kinases - genetics</subject><subject>Medical sciences</subject><subject>Mice</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>NF-kappa B - metabolism</subject><subject>NF-κB</subject><subject>Non tumoral diseases</subject><subject>Otorhinolaryngology. Stomatology</subject><subject>Sequence Alignment</subject><subject>Skin involvement in other diseases. Miscellaneous. General aspects</subject><subject>Species Specificity</subject><subject>TNF Receptor-Associated Factor 6 - genetics</subject><subject>Zebrafish</subject><issn>0007-0963</issn><issn>1365-2133</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU-P0zAQxS0EYsvCV0C-IE4p439Jc-BQtrtd0C5ICBaJA9bEsbUuaZyNE9F-exxayhFfxvL7vZFnHiGUwZyl82YzZyJXGWdCzDmkVyjzAua7R2R2Eh6TGQAUWZLEGXkW4waACVDwlJxx4JyXnM3Ij9txwMGHNlLf0svV8vNytaJoTBjbgbrQU6Rxi01Duz50oZ9QGhy933fh3td9GLyh1gyhtn3CaL2PXYPRIzUYbXxOnjhson1xrOfk69Xll4vr7ObT-v3F8iYzkpWQyTJNhbZGhEo4ZlGhq4qF48JVUDFeqVqxioEw0lZgCueK3OWWs5yrUpqFOCevD33TLx9GGwe99dHYpsHWhjHqQqpSyIVU_yeFkCrPYSJfHsmx2tpad73fYr_Xf5eXgFdHAKPBxvXYGh__cbzIRSkhcW8P3C_f2P1JZ6CnMPVGT5npKTM9han_hKl3-t2H1XRL_uzg93Gwu5Mf-586L0Sh9LePa317dS3Xd9_v0gC_AQLPoP8</recordid><startdate>201005</startdate><enddate>201005</enddate><creator>Chassaing, N.</creator><creator>Cluzeau, C.</creator><creator>Bal, E.</creator><creator>Guigue, P.</creator><creator>Vincent, M-C.</creator><creator>Viot, G.</creator><creator>Ginisty, D.</creator><creator>Munnich, A.</creator><creator>Smahi, A.</creator><creator>Calvas, P.</creator><general>Blackwell Publishing Ltd</general><general>Wiley-Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201005</creationdate><title>Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases</title><author>Chassaing, N. ; Cluzeau, C. ; Bal, E. ; Guigue, P. ; Vincent, M-C. ; Viot, G. ; Ginisty, D. ; Munnich, A. ; Smahi, A. ; Calvas, P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4190-49111aedaa0b3f1ea5afb78f23fb0b12b5d51b103c4eb0c7ff76f6e2162594c83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adaptor Proteins, Signal Transducing - genetics</topic><topic>Adult</topic><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Dermatology</topic><topic>DNA Mutational Analysis - methods</topic><topic>Ectodermal Dysplasia - genetics</topic><topic>Ectodermal Dysplasia - metabolism</topic><topic>EDA</topic><topic>EDAR</topic><topic>Edar-Associated Death Domain Protein - genetics</topic><topic>EDARADD</topic><topic>Facial bones, jaws, teeth, parodontium: diseases, semeiology</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Hair and nails disorders</topic><topic>Humans</topic><topic>hypohidrotic ectodermal dysplasia</topic><topic>MAP Kinase Kinase Kinases - genetics</topic><topic>Medical sciences</topic><topic>Mice</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>NF-kappa B - metabolism</topic><topic>NF-κB</topic><topic>Non tumoral diseases</topic><topic>Otorhinolaryngology. Stomatology</topic><topic>Sequence Alignment</topic><topic>Skin involvement in other diseases. Miscellaneous. General aspects</topic><topic>Species Specificity</topic><topic>TNF Receptor-Associated Factor 6 - genetics</topic><topic>Zebrafish</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chassaing, N.</creatorcontrib><creatorcontrib>Cluzeau, C.</creatorcontrib><creatorcontrib>Bal, E.</creatorcontrib><creatorcontrib>Guigue, P.</creatorcontrib><creatorcontrib>Vincent, M-C.</creatorcontrib><creatorcontrib>Viot, G.</creatorcontrib><creatorcontrib>Ginisty, D.</creatorcontrib><creatorcontrib>Munnich, A.</creatorcontrib><creatorcontrib>Smahi, A.</creatorcontrib><creatorcontrib>Calvas, P.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>British journal of dermatology (1951)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chassaing, N.</au><au>Cluzeau, C.</au><au>Bal, E.</au><au>Guigue, P.</au><au>Vincent, M-C.</au><au>Viot, G.</au><au>Ginisty, D.</au><au>Munnich, A.</au><au>Smahi, A.</au><au>Calvas, P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases</atitle><jtitle>British journal of dermatology (1951)</jtitle><addtitle>Br J Dermatol</addtitle><date>2010-05</date><risdate>2010</risdate><volume>162</volume><issue>5</issue><spage>1044</spage><epage>1048</epage><pages>1044-1048</pages><issn>0007-0963</issn><eissn>1365-2133</eissn><coden>BJDEAZ</coden><abstract>Summary
Background Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X‐linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases. Autosomal dominant and recessive forms occasionally occur and result from mutations in at least two other genes: EDAR and EDARADD. EDARADD interacts with the TAB2/TRAF6/TAK1 complex, which is necessary for NF‐κB activation by EDAR.
Objectives To determine frequency of EDARADD, TRAF6, TAB2 and TAK1 mutations in HED.
Materials and methods We have screened 28 familial or sporadic HED cases with no mutations in the EDA and EDAR genes for EDARADD, TRAF6, TAB2 and TAK1 mutations.
Results We identified one EDARADD 6‐bp homozygous in‐frame deletion (c.402‐407del, p.Thr135‐Val136del) in a patient born to consanguineous parents. Functional studies showed that the p.Thr135‐Val136del impaired the EDAR–EDARADD interaction and then severely inhibited NF‐κB activity. In the remaining 27 patients, we failed to find causative mutations in EDARADD, or in TRAF6, TAB2 or TAK1.
Conclusions Our study demonstrates that EDARADD mutations are not a frequent cause of HED, while mutations in TRAF6, TAB2 and TAK1 may not be implicated in this disease.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>20222921</pmid><doi>10.1111/j.1365-2133.2010.09670.x</doi><tpages>5</tpages></addata></record> |
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source | Wiley Online Library - AutoHoldings Journals; MEDLINE; Oxford University Press Journals All Titles (1996-Current) |
subjects | Adaptor Proteins, Signal Transducing - genetics Adult Amino Acid Sequence Animals Base Sequence Biological and medical sciences Dermatology DNA Mutational Analysis - methods Ectodermal Dysplasia - genetics Ectodermal Dysplasia - metabolism EDA EDAR Edar-Associated Death Domain Protein - genetics EDARADD Facial bones, jaws, teeth, parodontium: diseases, semeiology Female Genetic Predisposition to Disease Hair and nails disorders Humans hypohidrotic ectodermal dysplasia MAP Kinase Kinase Kinases - genetics Medical sciences Mice Molecular Sequence Data Mutation NF-kappa B - metabolism NF-κB Non tumoral diseases Otorhinolaryngology. Stomatology Sequence Alignment Skin involvement in other diseases. Miscellaneous. General aspects Species Specificity TNF Receptor-Associated Factor 6 - genetics Zebrafish |
title | Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases |
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