A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity
Auriculocondylar syndrome (ARCND, MIM #614669, #602483, and #615706); also known as ‘‘question-mark ear syndrome’’ or ‘‘dysgnathia complex’’, is a rare craniofacial malformation of first and second branchial arches with a prevalence of 90% of tested ARCND patients. Whole exome sequencing in a multig...
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| Veröffentlicht in: | European journal of medical genetics 2020-06, Vol.63 (6), p.103917-103917, Article 103917 |
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| container_title | European journal of medical genetics |
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| creator | Nabil, Amira El Shafei, Sahar El Shakankiri, Nihal M. Habib, Ahmed Morsy, Heba Maddirevula, Sateesh Alkuraya, Fowzan S. |
| description | Auriculocondylar syndrome (ARCND, MIM #614669, #602483, and #615706); also known as ‘‘question-mark ear syndrome’’ or ‘‘dysgnathia complex’’, is a rare craniofacial malformation of first and second branchial arches with a prevalence of 90% of tested ARCND patients. Whole exome sequencing in a multigenerational Egyptian kindred with high intrafamilial variability revealed a known heterozygous missense variant in PLCB4 (NM_000933.3:c.1862G>A:p.(Arg621His)). This report increases the number of molecularly characterized ARCND patients to 29 and emphasizes the highly variable clinical presentation within families. |
| doi_str_mv | 10.1016/j.ejmg.2020.103917 |
| format | Article |
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It is characterized by a distinctive auricular malformation (question mark ear (QME)) and highly variable mandibular anomalies. Variants found in PLCB4, GNAI3, and in EDN1 genes are responsible for >90% of tested ARCND patients. Whole exome sequencing in a multigenerational Egyptian kindred with high intrafamilial variability revealed a known heterozygous missense variant in PLCB4 (NM_000933.3:c.1862G>A:p.(Arg621His)). This report increases the number of molecularly characterized ARCND patients to 29 and emphasizes the highly variable clinical presentation within families.</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2020.103917</identifier><identifier>PMID: 32201334</identifier><language>eng</language><publisher>Netherlands: Elsevier Masson SAS</publisher><subject>Adolescent ; Adult ; ARCND ; Child ; Ear - abnormalities ; Ear - pathology ; Ear Diseases - genetics ; Ear Diseases - pathology ; Endothelin-1 - genetics ; Familial ; Female ; GTP-Binding Protein alpha Subunits, Gi-Go - genetics ; Humans ; Male ; Mandibular to maxillary transformation ; Mutation ; Pedigree ; Phenotype ; Phospholipase C beta - genetics ; PLCB4 ; Variability</subject><ispartof>European journal of medical genetics, 2020-06, Vol.63 (6), p.103917-103917, Article 103917</ispartof><rights>2020 Elsevier Masson SAS</rights><rights>Copyright © 2020 Elsevier Masson SAS. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-74d056c54db236b26dcaa97e69e81a45ab880905deedb60c23c1b13881fb732b3</citedby><cites>FETCH-LOGICAL-c356t-74d056c54db236b26dcaa97e69e81a45ab880905deedb60c23c1b13881fb732b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ejmg.2020.103917$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32201334$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nabil, Amira</creatorcontrib><creatorcontrib>El Shafei, Sahar</creatorcontrib><creatorcontrib>El Shakankiri, Nihal M.</creatorcontrib><creatorcontrib>Habib, Ahmed</creatorcontrib><creatorcontrib>Morsy, Heba</creatorcontrib><creatorcontrib>Maddirevula, Sateesh</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S.</creatorcontrib><title>A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity</title><title>European journal of medical genetics</title><addtitle>Eur J Med Genet</addtitle><description>Auriculocondylar syndrome (ARCND, MIM #614669, #602483, and #615706); also known as ‘‘question-mark ear syndrome’’ or ‘‘dysgnathia complex’’, is a rare craniofacial malformation of first and second branchial arches with a prevalence of <1/1,000,000. It is characterized by a distinctive auricular malformation (question mark ear (QME)) and highly variable mandibular anomalies. Variants found in PLCB4, GNAI3, and in EDN1 genes are responsible for >90% of tested ARCND patients. Whole exome sequencing in a multigenerational Egyptian kindred with high intrafamilial variability revealed a known heterozygous missense variant in PLCB4 (NM_000933.3:c.1862G>A:p.(Arg621His)). This report increases the number of molecularly characterized ARCND patients to 29 and emphasizes the highly variable clinical presentation within families.</description><subject>Adolescent</subject><subject>Adult</subject><subject>ARCND</subject><subject>Child</subject><subject>Ear - abnormalities</subject><subject>Ear - pathology</subject><subject>Ear Diseases - genetics</subject><subject>Ear Diseases - pathology</subject><subject>Endothelin-1 - genetics</subject><subject>Familial</subject><subject>Female</subject><subject>GTP-Binding Protein alpha Subunits, Gi-Go - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Mandibular to maxillary transformation</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Phospholipase C beta - genetics</subject><subject>PLCB4</subject><subject>Variability</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMlOwzAQhi0EoqXwAhyQj1xSvGRxJC6lYpMqwaGcLS-T4ipLsZOivD2JWjhymtHo-39pPoSuKZlTQtO77Ry21WbOCBsPPKfZCZpSkYmIiDg_HfYszaOMUTZBFyFsCeGCsvwcTThjhHIeT9F6gQtVudKpEr-vlg8xrrpWta6psVFdcPUGq84705WNaWrbl8rj0NfWNxVghr9d-4n3yjulS8AB9uBd21-is0KVAa6Oc4Y-nh7Xy5do9fb8ulysIsOTtI2y2JIkNUlsNeOpZqk1SuUZpDkIquJEaSFIThILYHVKDOOGasqFoIXOONN8hm4PvTvffHUQWlm5YKAsVQ1NFyQb_h1MUMEHlB1Q45sQPBRy512lfC8pkaNNuZWjTTnalAebQ-jm2N_pCuxf5FffANwfABi-3DvwMhgHtQHrPJhW2sb91_8DurGFyA</recordid><startdate>202006</startdate><enddate>202006</enddate><creator>Nabil, Amira</creator><creator>El Shafei, Sahar</creator><creator>El Shakankiri, Nihal M.</creator><creator>Habib, Ahmed</creator><creator>Morsy, Heba</creator><creator>Maddirevula, Sateesh</creator><creator>Alkuraya, Fowzan S.</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>202006</creationdate><title>A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity</title><author>Nabil, Amira ; El Shafei, Sahar ; El Shakankiri, Nihal M. ; Habib, Ahmed ; Morsy, Heba ; Maddirevula, Sateesh ; Alkuraya, Fowzan S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-74d056c54db236b26dcaa97e69e81a45ab880905deedb60c23c1b13881fb732b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>ARCND</topic><topic>Child</topic><topic>Ear - abnormalities</topic><topic>Ear - pathology</topic><topic>Ear Diseases - genetics</topic><topic>Ear Diseases - pathology</topic><topic>Endothelin-1 - genetics</topic><topic>Familial</topic><topic>Female</topic><topic>GTP-Binding Protein alpha Subunits, Gi-Go - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Mandibular to maxillary transformation</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Phospholipase C beta - genetics</topic><topic>PLCB4</topic><topic>Variability</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nabil, Amira</creatorcontrib><creatorcontrib>El Shafei, Sahar</creatorcontrib><creatorcontrib>El Shakankiri, Nihal M.</creatorcontrib><creatorcontrib>Habib, Ahmed</creatorcontrib><creatorcontrib>Morsy, Heba</creatorcontrib><creatorcontrib>Maddirevula, Sateesh</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S.</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>Nabil, Amira</au><au>El Shafei, Sahar</au><au>El Shakankiri, Nihal M.</au><au>Habib, Ahmed</au><au>Morsy, Heba</au><au>Maddirevula, Sateesh</au><au>Alkuraya, Fowzan S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity</atitle><jtitle>European journal of medical genetics</jtitle><addtitle>Eur J Med Genet</addtitle><date>2020-06</date><risdate>2020</risdate><volume>63</volume><issue>6</issue><spage>103917</spage><epage>103917</epage><pages>103917-103917</pages><artnum>103917</artnum><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>Auriculocondylar syndrome (ARCND, MIM #614669, #602483, and #615706); 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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Adolescent Adult ARCND Child Ear - abnormalities Ear - pathology Ear Diseases - genetics Ear Diseases - pathology Endothelin-1 - genetics Familial Female GTP-Binding Protein alpha Subunits, Gi-Go - genetics Humans Male Mandibular to maxillary transformation Mutation Pedigree Phenotype Phospholipase C beta - genetics PLCB4 Variability |
| title | A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity |
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