Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families
Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2 , encoding Runt DNA-binding domain pro...
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| Veröffentlicht in: | European journal of medical genetics 2017-03, Vol.60 (3), p.163-168 |
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| creator | Bir, Firdevs Dinçsoy Dinçkan, Nuriye Güven, Yeliz Baş, Firdevs Altunoğlu, Umut Kuvvetli, Senem S Poyrazoğlu, Şükran Toksoy, Güven Kayserili, Hülya Oya Uyguner, Z |
| description | Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2 , encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del). |
| doi_str_mv | 10.1016/j.ejmg.2016.12.007 |
| format | Article |
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RUNX2 , encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del).</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2016.12.007</identifier><identifier>PMID: 28027977</identifier><language>eng</language><publisher>Netherlands: Elsevier Masson SAS</publisher><subject>Adolescent ; Adult ; Body Height - genetics ; Bone Density - genetics ; Child ; Child, Preschool ; Clavicle - pathology ; Cleidocranial dysplasia ; Cleidocranial Dysplasia - genetics ; Cleidocranial Dysplasia - pathology ; Core Binding Factor Alpha 1 Subunit - genetics ; Dental abnormalities ; Facies ; Female ; Growth Disorders - genetics ; Humans ; Male ; Malocclusion - genetics ; Medical Education ; Middle Aged ; Osteoporosis ; Osteoporosis - complications ; Osteoporosis - genetics ; RUNX2 ; Underdeveloped clavicles</subject><ispartof>European journal of medical genetics, 2017-03, Vol.60 (3), p.163-168</ispartof><rights>2016 Elsevier Masson SAS</rights><rights>Copyright © 2016 Elsevier Masson SAS. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c411t-d3c0dc16fe16d2d3862038dd97ba2407939571113dc77db2a9db45b9c1808ee93</citedby><cites>FETCH-LOGICAL-c411t-d3c0dc16fe16d2d3862038dd97ba2407939571113dc77db2a9db45b9c1808ee93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1769721216301227$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28027977$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bir, Firdevs Dinçsoy</creatorcontrib><creatorcontrib>Dinçkan, Nuriye</creatorcontrib><creatorcontrib>Güven, Yeliz</creatorcontrib><creatorcontrib>Baş, Firdevs</creatorcontrib><creatorcontrib>Altunoğlu, Umut</creatorcontrib><creatorcontrib>Kuvvetli, Senem S</creatorcontrib><creatorcontrib>Poyrazoğlu, Şükran</creatorcontrib><creatorcontrib>Toksoy, Güven</creatorcontrib><creatorcontrib>Kayserili, Hülya</creatorcontrib><creatorcontrib>Oya Uyguner, Z</creatorcontrib><title>Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families</title><title>European journal of medical genetics</title><addtitle>Eur J Med Genet</addtitle><description>Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2 , encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del).</description><subject>Adolescent</subject><subject>Adult</subject><subject>Body Height - genetics</subject><subject>Bone Density - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Clavicle - pathology</subject><subject>Cleidocranial dysplasia</subject><subject>Cleidocranial Dysplasia - genetics</subject><subject>Cleidocranial Dysplasia - pathology</subject><subject>Core Binding Factor Alpha 1 Subunit - genetics</subject><subject>Dental abnormalities</subject><subject>Facies</subject><subject>Female</subject><subject>Growth Disorders - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Malocclusion - genetics</subject><subject>Medical Education</subject><subject>Middle Aged</subject><subject>Osteoporosis</subject><subject>Osteoporosis - complications</subject><subject>Osteoporosis - genetics</subject><subject>RUNX2</subject><subject>Underdeveloped clavicles</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kTGP1DAQhSME4o6DP0CBXFKQ4HGysY0QElpxgHQSBVBbjj1ZHBx7sROk_fc42uUKCqqZ4r2nme9V1XOgDVDoX08NTvOhYWVvgDWU8gfVNQguaio6-bDsvJc1Z8Cuqic5T5S2Aph8XF0xQRmXnF9XP_YenY0m6eC0J_aUj15np9-QvXfBGe1fEQybwIXo48EZooMlc_RoVq8TGV2wLhwycYHAjhz14jAsmYwpzgSAjHp23mF-Wj0atc_47DJvqu-3H77tP9V3Xz5-3r-_q00HsNS2NdQa6EeE3jLbip6Vq62VfNCso1y2cscBoLWGczswLe3Q7QZpQFCBKNub6uU595jirxXzomaXDXqvA8Y1KxC7lnddL1iRsrPUpJhzwlEdk5t1OimgaiOsJrURVhthBUwVwsX04pK_DjPae8tfpEXw9izA8uVvh0llU5AYtC6hWZSN7v_57_6xm0sRP_GEeYprCoWfApWLQX3dOt4qhr6lwBhv_wAzvaFx</recordid><startdate>20170301</startdate><enddate>20170301</enddate><creator>Bir, Firdevs Dinçsoy</creator><creator>Dinçkan, Nuriye</creator><creator>Güven, Yeliz</creator><creator>Baş, Firdevs</creator><creator>Altunoğlu, Umut</creator><creator>Kuvvetli, Senem S</creator><creator>Poyrazoğlu, Şükran</creator><creator>Toksoy, Güven</creator><creator>Kayserili, Hülya</creator><creator>Oya Uyguner, Z</creator><general>Elsevier Masson SAS</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20170301</creationdate><title>Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families</title><author>Bir, Firdevs Dinçsoy ; Dinçkan, Nuriye ; Güven, Yeliz ; Baş, Firdevs ; Altunoğlu, Umut ; Kuvvetli, Senem S ; Poyrazoğlu, Şükran ; Toksoy, Güven ; Kayserili, Hülya ; Oya Uyguner, Z</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c411t-d3c0dc16fe16d2d3862038dd97ba2407939571113dc77db2a9db45b9c1808ee93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Body Height - genetics</topic><topic>Bone Density - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Clavicle - pathology</topic><topic>Cleidocranial dysplasia</topic><topic>Cleidocranial Dysplasia - genetics</topic><topic>Cleidocranial Dysplasia - pathology</topic><topic>Core Binding Factor Alpha 1 Subunit - genetics</topic><topic>Dental abnormalities</topic><topic>Facies</topic><topic>Female</topic><topic>Growth Disorders - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Malocclusion - genetics</topic><topic>Medical Education</topic><topic>Middle Aged</topic><topic>Osteoporosis</topic><topic>Osteoporosis - complications</topic><topic>Osteoporosis - genetics</topic><topic>RUNX2</topic><topic>Underdeveloped clavicles</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bir, Firdevs Dinçsoy</creatorcontrib><creatorcontrib>Dinçkan, Nuriye</creatorcontrib><creatorcontrib>Güven, Yeliz</creatorcontrib><creatorcontrib>Baş, Firdevs</creatorcontrib><creatorcontrib>Altunoğlu, Umut</creatorcontrib><creatorcontrib>Kuvvetli, Senem S</creatorcontrib><creatorcontrib>Poyrazoğlu, Şükran</creatorcontrib><creatorcontrib>Toksoy, Güven</creatorcontrib><creatorcontrib>Kayserili, Hülya</creatorcontrib><creatorcontrib>Oya Uyguner, Z</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bir, Firdevs Dinçsoy</au><au>Dinçkan, Nuriye</au><au>Güven, Yeliz</au><au>Baş, Firdevs</au><au>Altunoğlu, Umut</au><au>Kuvvetli, Senem S</au><au>Poyrazoğlu, Şükran</au><au>Toksoy, Güven</au><au>Kayserili, Hülya</au><au>Oya Uyguner, Z</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families</atitle><jtitle>European journal of medical genetics</jtitle><addtitle>Eur J Med Genet</addtitle><date>2017-03-01</date><risdate>2017</risdate><volume>60</volume><issue>3</issue><spage>163</spage><epage>168</epage><pages>163-168</pages><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2 , encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del).</abstract><cop>Netherlands</cop><pub>Elsevier Masson SAS</pub><pmid>28027977</pmid><doi>10.1016/j.ejmg.2016.12.007</doi><tpages>6</tpages></addata></record> |
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| subjects | Adolescent Adult Body Height - genetics Bone Density - genetics Child Child, Preschool Clavicle - pathology Cleidocranial dysplasia Cleidocranial Dysplasia - genetics Cleidocranial Dysplasia - pathology Core Binding Factor Alpha 1 Subunit - genetics Dental abnormalities Facies Female Growth Disorders - genetics Humans Male Malocclusion - genetics Medical Education Middle Aged Osteoporosis Osteoporosis - complications Osteoporosis - genetics RUNX2 Underdeveloped clavicles |
| title | Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families |
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