DLX3 Homeodomain Mutations Cause Tricho-Dento-Osseous Syndrome with Novel Phenotypes
Tricho-dento-osseous syndrome (TDO) is a rare type of dominantly inherited ectodermal dysplasia so far described only in a few families and associated with 3 known mutations in the DLX3 homeobox gene. Here, we describe two families of Finnish origin that segregate features of TDO in several generati...
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| Veröffentlicht in: | Cells, tissues, organs tissues, organs, 2011-06, Vol.194 (1), p.49-59 |
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| creator | Nieminen, Pekka Lukinmaa, Pirjo-Liisa Alapulli, Heikki Methuen, Mirja Suojärvi, Timo Kivirikko, Sirpa Peltola, Jaakko Asikainen, Mikko Alaluusua, Satu |
| description | Tricho-dento-osseous syndrome (TDO) is a rare type of dominantly inherited ectodermal dysplasia so far described only in a few families and associated with 3 known mutations in the DLX3 homeobox gene. Here, we describe two families of Finnish origin that segregate features of TDO in several generations. The affected family members have sparse or curly/kinky hair at birth, markedly delayed or advanced dental maturity, defective tooth enamel and dentin, taurodontic molars, multiple dental abscesses and filling of tooth pulps with amorphous denticle-like material as well as an increased density and/or thickness of craniofacial bones. The disease is especially accentuated in one of the families in which the patients develop only lanugo-type hair and the dental abnormalities are severe. After mutational analysis of DLX3, we identified 2 missense mutations affecting the conserved homeodomain. We suggest that TDO is essentially caused by loss of function and haploinsufficiency of DLX3. |
| doi_str_mv | 10.1159/000322561 |
| format | Article |
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Here, we describe two families of Finnish origin that segregate features of TDO in several generations. The affected family members have sparse or curly/kinky hair at birth, markedly delayed or advanced dental maturity, defective tooth enamel and dentin, taurodontic molars, multiple dental abscesses and filling of tooth pulps with amorphous denticle-like material as well as an increased density and/or thickness of craniofacial bones. The disease is especially accentuated in one of the families in which the patients develop only lanugo-type hair and the dental abnormalities are severe. After mutational analysis of DLX3, we identified 2 missense mutations affecting the conserved homeodomain. We suggest that TDO is essentially caused by loss of function and haploinsufficiency of DLX3.</description><identifier>ISSN: 1422-6405</identifier><identifier>EISSN: 1422-6421</identifier><identifier>DOI: 10.1159/000322561</identifier><identifier>PMID: 21252474</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Abscesses ; Amino Acid Sequence ; Base Sequence ; Birth ; Craniofacial Abnormalities ; Dental enamel ; Dental Enamel Hypoplasia - genetics ; Dental pulp ; Dentin ; Dentition ; DNA Mutational Analysis ; Dysplasia ; Family ; Finland ; Genes, Homeobox ; Hair ; Hair Diseases - genetics ; Haploinsufficiency ; Homeobox ; Homeodomain Proteins - genetics ; Humans ; Missense mutation ; Molars ; Molecular Sequence Data ; Mutation ; Original Paper ; Phenotype ; Teeth ; Transcription Factors - genetics</subject><ispartof>Cells, tissues, organs, 2011-06, Vol.194 (1), p.49-59</ispartof><rights>2011 S. Karger AG, Basel</rights><rights>Copyright © 2011 S. Karger AG, Basel.</rights><rights>Copyright (c) 2011 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c364t-cd5679597bb431ef389c9a707dcbaef5b567ea3035d3e008d90166147ab13a093</citedby><cites>FETCH-LOGICAL-c364t-cd5679597bb431ef389c9a707dcbaef5b567ea3035d3e008d90166147ab13a093</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,2422,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21252474$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nieminen, Pekka</creatorcontrib><creatorcontrib>Lukinmaa, Pirjo-Liisa</creatorcontrib><creatorcontrib>Alapulli, Heikki</creatorcontrib><creatorcontrib>Methuen, Mirja</creatorcontrib><creatorcontrib>Suojärvi, Timo</creatorcontrib><creatorcontrib>Kivirikko, Sirpa</creatorcontrib><creatorcontrib>Peltola, Jaakko</creatorcontrib><creatorcontrib>Asikainen, Mikko</creatorcontrib><creatorcontrib>Alaluusua, Satu</creatorcontrib><title>DLX3 Homeodomain Mutations Cause Tricho-Dento-Osseous Syndrome with Novel Phenotypes</title><title>Cells, tissues, organs</title><addtitle>Cells Tissues Organs</addtitle><description>Tricho-dento-osseous syndrome (TDO) is a rare type of dominantly inherited ectodermal dysplasia so far described only in a few families and associated with 3 known mutations in the DLX3 homeobox gene. Here, we describe two families of Finnish origin that segregate features of TDO in several generations. The affected family members have sparse or curly/kinky hair at birth, markedly delayed or advanced dental maturity, defective tooth enamel and dentin, taurodontic molars, multiple dental abscesses and filling of tooth pulps with amorphous denticle-like material as well as an increased density and/or thickness of craniofacial bones. The disease is especially accentuated in one of the families in which the patients develop only lanugo-type hair and the dental abnormalities are severe. After mutational analysis of DLX3, we identified 2 missense mutations affecting the conserved homeodomain. We suggest that TDO is essentially caused by loss of function and haploinsufficiency of DLX3.</description><subject>Abscesses</subject><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Birth</subject><subject>Craniofacial Abnormalities</subject><subject>Dental enamel</subject><subject>Dental Enamel Hypoplasia - genetics</subject><subject>Dental pulp</subject><subject>Dentin</subject><subject>Dentition</subject><subject>DNA Mutational Analysis</subject><subject>Dysplasia</subject><subject>Family</subject><subject>Finland</subject><subject>Genes, Homeobox</subject><subject>Hair</subject><subject>Hair Diseases - genetics</subject><subject>Haploinsufficiency</subject><subject>Homeobox</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>Missense mutation</subject><subject>Molars</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Original Paper</subject><subject>Phenotype</subject><subject>Teeth</subject><subject>Transcription Factors - genetics</subject><issn>1422-6405</issn><issn>1422-6421</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqF0U1Lw0AQBuBFFKvVg3eR4EU8RPc72aO0aoVqBSt4C5tkYlObbN1NlP57t7Tm4MXTLMwzwywvQicEXxEi1DXGmFEqJNlBB4RTGkpOyW73xqKHDp2be0Z9Yx_1KKGC8ogfoOlw_MaCkanA5KbSZR08to1uSlO7YKBbB8HUltnMhEOoGxNOnAPTuuBlVefWDwXfZTMLnswXLILnGdSmWS3BHaG9Qi8cHG9rH73e3U4Ho3A8uX8Y3IzDjEnehFkuZKSEitKUMwIFi1WmdISjPEs1FCL1bdAMM5EzwDjOFSZSEh7plDCNFeuji83epTWfLbgmqUqXwWKh6_WViaIyVjiW8b8yjhgjPJbYy_M_cm5aW_tveMQxVYKt0eUGZdY4Z6FIlrastF0lBCfrSJIuEm_PtgvbtIK8k78ZeHC6AR_avoPtwHb-B_9VjRw</recordid><startdate>201106</startdate><enddate>201106</enddate><creator>Nieminen, Pekka</creator><creator>Lukinmaa, Pirjo-Liisa</creator><creator>Alapulli, Heikki</creator><creator>Methuen, Mirja</creator><creator>Suojärvi, Timo</creator><creator>Kivirikko, Sirpa</creator><creator>Peltola, Jaakko</creator><creator>Asikainen, Mikko</creator><creator>Alaluusua, Satu</creator><general>S. 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genetics</topic><topic>Dental pulp</topic><topic>Dentin</topic><topic>Dentition</topic><topic>DNA Mutational Analysis</topic><topic>Dysplasia</topic><topic>Family</topic><topic>Finland</topic><topic>Genes, Homeobox</topic><topic>Hair</topic><topic>Hair Diseases - genetics</topic><topic>Haploinsufficiency</topic><topic>Homeobox</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>Missense mutation</topic><topic>Molars</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Original Paper</topic><topic>Phenotype</topic><topic>Teeth</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nieminen, Pekka</creatorcontrib><creatorcontrib>Lukinmaa, Pirjo-Liisa</creatorcontrib><creatorcontrib>Alapulli, Heikki</creatorcontrib><creatorcontrib>Methuen, Mirja</creatorcontrib><creatorcontrib>Suojärvi, Timo</creatorcontrib><creatorcontrib>Kivirikko, Sirpa</creatorcontrib><creatorcontrib>Peltola, Jaakko</creatorcontrib><creatorcontrib>Asikainen, Mikko</creatorcontrib><creatorcontrib>Alaluusua, Satu</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><jtitle>Cells, tissues, organs</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nieminen, Pekka</au><au>Lukinmaa, Pirjo-Liisa</au><au>Alapulli, Heikki</au><au>Methuen, Mirja</au><au>Suojärvi, Timo</au><au>Kivirikko, Sirpa</au><au>Peltola, Jaakko</au><au>Asikainen, Mikko</au><au>Alaluusua, Satu</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>DLX3 Homeodomain Mutations Cause Tricho-Dento-Osseous Syndrome with Novel Phenotypes</atitle><jtitle>Cells, tissues, organs</jtitle><addtitle>Cells Tissues Organs</addtitle><date>2011-06</date><risdate>2011</risdate><volume>194</volume><issue>1</issue><spage>49</spage><epage>59</epage><pages>49-59</pages><issn>1422-6405</issn><eissn>1422-6421</eissn><abstract>Tricho-dento-osseous syndrome (TDO) is a rare type of dominantly inherited ectodermal dysplasia so far described only in a few families and associated with 3 known mutations in the DLX3 homeobox gene. Here, we describe two families of Finnish origin that segregate features of TDO in several generations. The affected family members have sparse or curly/kinky hair at birth, markedly delayed or advanced dental maturity, defective tooth enamel and dentin, taurodontic molars, multiple dental abscesses and filling of tooth pulps with amorphous denticle-like material as well as an increased density and/or thickness of craniofacial bones. The disease is especially accentuated in one of the families in which the patients develop only lanugo-type hair and the dental abnormalities are severe. After mutational analysis of DLX3, we identified 2 missense mutations affecting the conserved homeodomain. We suggest that TDO is essentially caused by loss of function and haploinsufficiency of DLX3.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>21252474</pmid><doi>10.1159/000322561</doi><tpages>11</tpages></addata></record> |
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| ispartof | Cells, tissues, organs, 2011-06, Vol.194 (1), p.49-59 |
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| source | MEDLINE; Karger Journals; Alma/SFX Local Collection |
| subjects | Abscesses Amino Acid Sequence Base Sequence Birth Craniofacial Abnormalities Dental enamel Dental Enamel Hypoplasia - genetics Dental pulp Dentin Dentition DNA Mutational Analysis Dysplasia Family Finland Genes, Homeobox Hair Hair Diseases - genetics Haploinsufficiency Homeobox Homeodomain Proteins - genetics Humans Missense mutation Molars Molecular Sequence Data Mutation Original Paper Phenotype Teeth Transcription Factors - genetics |
| title | DLX3 Homeodomain Mutations Cause Tricho-Dento-Osseous Syndrome with Novel Phenotypes |
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