Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism
Abstract Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric...
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| Veröffentlicht in: | Journal of pediatric genetics (Birmingham, Ala.) Ala.), 2021-03, Vol.10 (1), p.063-069 |
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| container_title | Journal of pediatric genetics (Birmingham, Ala.) |
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| creator | Deconte, Desirée Correia, Elisa Pacheco Estima Haubert, Géssica de Souza, Vinicius Correia, Jamile Dutra Maahs, Marcia Angelica Peter Zen, Paulo Ricardo Gazzola Fiegenbaum, Marilu Rosa, Rafael Fabiano Machado |
| description | Abstract
Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of
SH3BP2
not only in the patient but also in her mother. Thus, we observed a variable expression and a probably reduced penetrance within the family, as well as unusual characteristics of the patient (in this case, the asymmetrical involvement of the jaw). |
| doi_str_mv | 10.1055/s-0040-1705095 |
| format | Article |
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Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of
SH3BP2
not only in the patient but also in her mother. Thus, we observed a variable expression and a probably reduced penetrance within the family, as well as unusual characteristics of the patient (in this case, the asymmetrical involvement of the jaw).</description><identifier>ISSN: 2146-4596</identifier><identifier>EISSN: 2146-460X</identifier><identifier>DOI: 10.1055/s-0040-1705095</identifier><identifier>PMID: 33552642</identifier><language>eng</language><publisher>Rüdigerstraße 14, 70469 Stuttgart, Germany: Georg Thieme Verlag KG</publisher><subject>Case Report</subject><ispartof>Journal of pediatric genetics (Birmingham, Ala.), 2021-03, Vol.10 (1), p.063-069</ispartof><rights>Thieme. All rights reserved.</rights><rights>Thieme. All rights reserved. 2020 Georg Thieme Verlag KG</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c280t-de36a4e0c19c92f131ca7e982fab3770c5f440da10fc1b7b616426a489d3eedd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7853913/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7853913/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33552642$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Deconte, Desirée</creatorcontrib><creatorcontrib>Correia, Elisa Pacheco Estima</creatorcontrib><creatorcontrib>Haubert, Géssica</creatorcontrib><creatorcontrib>de Souza, Vinicius</creatorcontrib><creatorcontrib>Correia, Jamile Dutra</creatorcontrib><creatorcontrib>Maahs, Marcia Angelica Peter</creatorcontrib><creatorcontrib>Zen, Paulo Ricardo Gazzola</creatorcontrib><creatorcontrib>Fiegenbaum, Marilu</creatorcontrib><creatorcontrib>Rosa, Rafael Fabiano Machado</creatorcontrib><title>Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism</title><title>Journal of pediatric genetics (Birmingham, Ala.)</title><addtitle>J Pediatr Genet</addtitle><description>Abstract
Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of
SH3BP2
not only in the patient but also in her mother. Thus, we observed a variable expression and a probably reduced penetrance within the family, as well as unusual characteristics of the patient (in this case, the asymmetrical involvement of the jaw).</description><subject>Case Report</subject><issn>2146-4596</issn><issn>2146-460X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNp1kE9LwzAYh4MobsxdPUq-QGfSNG1zEXRsKgy8uOEtvE1Tm9E_I2mn89ObsU30YC5v4P39noQHoWtKJpRwfusCQiIS0IRwIvgZGoY0ioMoJm_npzsX8QCNnVsTfxLKQpFeogFjnIdxFA7Ratn0rocKT0uwoDptjeuMchiaHK_AGsgqjWefG6udM1vT7bBpMOAHC1-mMtDgOdSm2uEP05Ueom2fGVdfoYsCKqfHxzlCy_nsdfoULF4en6f3i0CFKemCXLMYIk0UFUqEBWVUQaJFGhaQsSQhihdRRHKgpFA0S7KY-k_7RipypnWesxG6O3A3fVbrXOmms1DJjTU12J1swci_m8aU8r3dyiTlTFDmAZMDQNnWOauLny4lci9ZOrmXLI-SfeHm94s_8ZNSHwgOga40utZy3fa28Q7-A34DMiOH9g</recordid><startdate>20210301</startdate><enddate>20210301</enddate><creator>Deconte, Desirée</creator><creator>Correia, Elisa Pacheco Estima</creator><creator>Haubert, Géssica</creator><creator>de Souza, Vinicius</creator><creator>Correia, Jamile Dutra</creator><creator>Maahs, Marcia Angelica Peter</creator><creator>Zen, Paulo Ricardo Gazzola</creator><creator>Fiegenbaum, Marilu</creator><creator>Rosa, Rafael Fabiano Machado</creator><general>Georg Thieme Verlag KG</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope></search><sort><creationdate>20210301</creationdate><title>Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism</title><author>Deconte, Desirée ; Correia, Elisa Pacheco Estima ; Haubert, Géssica ; de Souza, Vinicius ; Correia, Jamile Dutra ; Maahs, Marcia Angelica Peter ; Zen, Paulo Ricardo Gazzola ; Fiegenbaum, Marilu ; Rosa, Rafael Fabiano Machado</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c280t-de36a4e0c19c92f131ca7e982fab3770c5f440da10fc1b7b616426a489d3eedd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Case Report</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Deconte, Desirée</creatorcontrib><creatorcontrib>Correia, Elisa Pacheco Estima</creatorcontrib><creatorcontrib>Haubert, Géssica</creatorcontrib><creatorcontrib>de Souza, Vinicius</creatorcontrib><creatorcontrib>Correia, Jamile Dutra</creatorcontrib><creatorcontrib>Maahs, Marcia Angelica Peter</creatorcontrib><creatorcontrib>Zen, Paulo Ricardo Gazzola</creatorcontrib><creatorcontrib>Fiegenbaum, Marilu</creatorcontrib><creatorcontrib>Rosa, Rafael Fabiano Machado</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of pediatric genetics (Birmingham, Ala.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Deconte, Desirée</au><au>Correia, Elisa Pacheco Estima</au><au>Haubert, Géssica</au><au>de Souza, Vinicius</au><au>Correia, Jamile Dutra</au><au>Maahs, Marcia Angelica Peter</au><au>Zen, Paulo Ricardo Gazzola</au><au>Fiegenbaum, Marilu</au><au>Rosa, Rafael Fabiano Machado</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism</atitle><jtitle>Journal of pediatric genetics (Birmingham, Ala.)</jtitle><addtitle>J Pediatr Genet</addtitle><date>2021-03-01</date><risdate>2021</risdate><volume>10</volume><issue>1</issue><spage>063</spage><epage>069</epage><pages>063-069</pages><issn>2146-4596</issn><eissn>2146-460X</eissn><abstract>Abstract
Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of
SH3BP2
not only in the patient but also in her mother. Thus, we observed a variable expression and a probably reduced penetrance within the family, as well as unusual characteristics of the patient (in this case, the asymmetrical involvement of the jaw).</abstract><cop>Rüdigerstraße 14, 70469 Stuttgart, Germany</cop><pub>Georg Thieme Verlag KG</pub><pmid>33552642</pmid><doi>10.1055/s-0040-1705095</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Case Report |
| title | Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism |
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