Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant entity characterized by eyelid malformations and caused by mutations in the forkhead box L2 (FOXL2) gene. Clinical and genetic analyses of large cohorts of BPES patients from different ethnic origins are important f...
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Veröffentlicht in: | Gene 2019-07, Vol.706, p.62-68 |
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creator | Chacón-Camacho, Oscar F. Salgado-Medina, Acatzin Alcaraz-Lares, Nayeli López-Moreno, Daniel Barragán-Arévalo, Tania Nava-Castañeda, Angel Rodríguez-Uribe, Genaro Lieberman, Esther Rodríguez-Cabrera, Lourdes González-Del Angel, Ariadna Borbolla, Ana María Fernández-Hernández, Liliana Graue-Hernández, Enrique O. Zenteno, Juan Carlos |
description | Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant entity characterized by eyelid malformations and caused by mutations in the forkhead box L2 (FOXL2) gene. Clinical and genetic analyses of large cohorts of BPES patients from different ethnic origins are important for a better characterization of FOXL2 mutational landscape. The purpose of this study is to describe the phenotypic features and the causal FOXL2 variants in a Mexican cohort of BPES patients. A total of 12 individuals with typical facial findings were included. Clinical evaluation included palpebral measurements and levator function assessment. The complete coding sequence of FOXL2 was amplified by PCR and subsequently analyzed by Sanger sequencing. A total of 11 distinct FOXL2 pathogenic variants were identified in our cohort (molecular diagnostic rate of 92%), including 5 novel mutations. Our results broaden the BPES-related mutational spectrum and supports considerable FOXL2 allelic heterogeneity in our population.
•First molecular analysis of FOXL2 gene in Mexican cohort with BPES syndrome•92% of all patients had heterozygous pathogenic variant.•Five novel mutations were identified.•Two changes identified may be associated to POF. |
doi_str_mv | 10.1016/j.gene.2019.04.073 |
format | Article |
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•First molecular analysis of FOXL2 gene in Mexican cohort with BPES syndrome•92% of all patients had heterozygous pathogenic variant.•Five novel mutations were identified.•Two changes identified may be associated to POF.</description><identifier>ISSN: 0378-1119</identifier><identifier>EISSN: 1879-0038</identifier><identifier>DOI: 10.1016/j.gene.2019.04.073</identifier><identifier>PMID: 31048069</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Blepharophimosis ; Blepharophimosis-ptosis-epicanthus inversus ; BPES ; Epicanthus ; FOXL2 ; Poly-alanine-tract ; Premature ovarian failure (POF) ; Ptosis ; Telecanthus</subject><ispartof>Gene, 2019-07, Vol.706, p.62-68</ispartof><rights>2019 Elsevier B.V.</rights><rights>Copyright © 2019 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-2ecdead29f1a26e413b6b08b48968627f4908fb05f3f4c991ff53e1fd30e85cb3</citedby><cites>FETCH-LOGICAL-c356t-2ecdead29f1a26e413b6b08b48968627f4908fb05f3f4c991ff53e1fd30e85cb3</cites><orcidid>0000-0002-9716-8146</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.gene.2019.04.073$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31048069$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chacón-Camacho, Oscar F.</creatorcontrib><creatorcontrib>Salgado-Medina, Acatzin</creatorcontrib><creatorcontrib>Alcaraz-Lares, Nayeli</creatorcontrib><creatorcontrib>López-Moreno, Daniel</creatorcontrib><creatorcontrib>Barragán-Arévalo, Tania</creatorcontrib><creatorcontrib>Nava-Castañeda, Angel</creatorcontrib><creatorcontrib>Rodríguez-Uribe, Genaro</creatorcontrib><creatorcontrib>Lieberman, Esther</creatorcontrib><creatorcontrib>Rodríguez-Cabrera, Lourdes</creatorcontrib><creatorcontrib>González-Del Angel, Ariadna</creatorcontrib><creatorcontrib>Borbolla, Ana María</creatorcontrib><creatorcontrib>Fernández-Hernández, Liliana</creatorcontrib><creatorcontrib>Graue-Hernández, Enrique O.</creatorcontrib><creatorcontrib>Zenteno, Juan Carlos</creatorcontrib><title>Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus</title><title>Gene</title><addtitle>Gene</addtitle><description>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant entity characterized by eyelid malformations and caused by mutations in the forkhead box L2 (FOXL2) gene. Clinical and genetic analyses of large cohorts of BPES patients from different ethnic origins are important for a better characterization of FOXL2 mutational landscape. The purpose of this study is to describe the phenotypic features and the causal FOXL2 variants in a Mexican cohort of BPES patients. A total of 12 individuals with typical facial findings were included. Clinical evaluation included palpebral measurements and levator function assessment. The complete coding sequence of FOXL2 was amplified by PCR and subsequently analyzed by Sanger sequencing. A total of 11 distinct FOXL2 pathogenic variants were identified in our cohort (molecular diagnostic rate of 92%), including 5 novel mutations. Our results broaden the BPES-related mutational spectrum and supports considerable FOXL2 allelic heterogeneity in our population.
•First molecular analysis of FOXL2 gene in Mexican cohort with BPES syndrome•92% of all patients had heterozygous pathogenic variant.•Five novel mutations were identified.•Two changes identified may be associated to POF.</description><subject>Blepharophimosis</subject><subject>Blepharophimosis-ptosis-epicanthus inversus</subject><subject>BPES</subject><subject>Epicanthus</subject><subject>FOXL2</subject><subject>Poly-alanine-tract</subject><subject>Premature ovarian failure (POF)</subject><subject>Ptosis</subject><subject>Telecanthus</subject><issn>0378-1119</issn><issn>1879-0038</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNp9kc1u1DAURi0EokPhBVggL9kk-CfJxBIbNKIFaVA3ILGzHOeaeJTYwXZSypPxeHU6hSXeXMk636drH4ReU1JSQpt3p_IHOCgZoaIkVUn2_Ana0XYvCkJ4-xTtCN-3BaVUXKAXMZ5IPnXNnqMLTknVkkbs0J_DaJ3VasR6UEHpBMH-Vsl6h5Xrse3BJWsy8HDlDTZ2Bez8CiO-uvl-ZHhWafB5EavxqoJVLkVscxprP_iQtgxl-Av8yiUOx6U7gc7IrU0DTgPgeOf64CfYwG6EOa_h58FOPtpYzOlhwLyF07Bs1SuEuMSX6JlRY4RXj_MSfbv6-PXwqTjeXH8-fDgWmtdNKhjoHlTPhKGKNVBR3jUdabuqFU3bsL2pBGlNR2rDTaWFoMbUHKjpOYG21h2_RG_PvXPwPxeISU42ahhH5cAvUTLGBKsII3VG2RnVwccYwMg52EmFO0mJ3IzJk9yMyc2YJJXMxnLozWP_0k3Q_4v8VZSB92cA8itXC0FGbcFp6G3IPyl7b__Xfw92CaxZ</recordid><startdate>20190720</startdate><enddate>20190720</enddate><creator>Chacón-Camacho, Oscar F.</creator><creator>Salgado-Medina, Acatzin</creator><creator>Alcaraz-Lares, Nayeli</creator><creator>López-Moreno, Daniel</creator><creator>Barragán-Arévalo, Tania</creator><creator>Nava-Castañeda, Angel</creator><creator>Rodríguez-Uribe, Genaro</creator><creator>Lieberman, Esther</creator><creator>Rodríguez-Cabrera, Lourdes</creator><creator>González-Del Angel, Ariadna</creator><creator>Borbolla, Ana María</creator><creator>Fernández-Hernández, Liliana</creator><creator>Graue-Hernández, Enrique O.</creator><creator>Zenteno, Juan Carlos</creator><general>Elsevier B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9716-8146</orcidid></search><sort><creationdate>20190720</creationdate><title>Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus</title><author>Chacón-Camacho, Oscar F. ; Salgado-Medina, Acatzin ; Alcaraz-Lares, Nayeli ; López-Moreno, Daniel ; Barragán-Arévalo, Tania ; Nava-Castañeda, Angel ; Rodríguez-Uribe, Genaro ; Lieberman, Esther ; Rodríguez-Cabrera, Lourdes ; González-Del Angel, Ariadna ; Borbolla, Ana María ; Fernández-Hernández, Liliana ; Graue-Hernández, Enrique O. ; Zenteno, Juan Carlos</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-2ecdead29f1a26e413b6b08b48968627f4908fb05f3f4c991ff53e1fd30e85cb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Blepharophimosis</topic><topic>Blepharophimosis-ptosis-epicanthus inversus</topic><topic>BPES</topic><topic>Epicanthus</topic><topic>FOXL2</topic><topic>Poly-alanine-tract</topic><topic>Premature ovarian failure (POF)</topic><topic>Ptosis</topic><topic>Telecanthus</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chacón-Camacho, Oscar F.</creatorcontrib><creatorcontrib>Salgado-Medina, Acatzin</creatorcontrib><creatorcontrib>Alcaraz-Lares, Nayeli</creatorcontrib><creatorcontrib>López-Moreno, Daniel</creatorcontrib><creatorcontrib>Barragán-Arévalo, Tania</creatorcontrib><creatorcontrib>Nava-Castañeda, Angel</creatorcontrib><creatorcontrib>Rodríguez-Uribe, Genaro</creatorcontrib><creatorcontrib>Lieberman, Esther</creatorcontrib><creatorcontrib>Rodríguez-Cabrera, Lourdes</creatorcontrib><creatorcontrib>González-Del Angel, Ariadna</creatorcontrib><creatorcontrib>Borbolla, Ana María</creatorcontrib><creatorcontrib>Fernández-Hernández, Liliana</creatorcontrib><creatorcontrib>Graue-Hernández, Enrique O.</creatorcontrib><creatorcontrib>Zenteno, Juan Carlos</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Gene</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chacón-Camacho, Oscar F.</au><au>Salgado-Medina, Acatzin</au><au>Alcaraz-Lares, Nayeli</au><au>López-Moreno, Daniel</au><au>Barragán-Arévalo, Tania</au><au>Nava-Castañeda, Angel</au><au>Rodríguez-Uribe, Genaro</au><au>Lieberman, Esther</au><au>Rodríguez-Cabrera, Lourdes</au><au>González-Del Angel, Ariadna</au><au>Borbolla, Ana María</au><au>Fernández-Hernández, Liliana</au><au>Graue-Hernández, Enrique O.</au><au>Zenteno, Juan Carlos</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus</atitle><jtitle>Gene</jtitle><addtitle>Gene</addtitle><date>2019-07-20</date><risdate>2019</risdate><volume>706</volume><spage>62</spage><epage>68</epage><pages>62-68</pages><issn>0378-1119</issn><eissn>1879-0038</eissn><abstract>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant entity characterized by eyelid malformations and caused by mutations in the forkhead box L2 (FOXL2) gene. Clinical and genetic analyses of large cohorts of BPES patients from different ethnic origins are important for a better characterization of FOXL2 mutational landscape. The purpose of this study is to describe the phenotypic features and the causal FOXL2 variants in a Mexican cohort of BPES patients. A total of 12 individuals with typical facial findings were included. Clinical evaluation included palpebral measurements and levator function assessment. The complete coding sequence of FOXL2 was amplified by PCR and subsequently analyzed by Sanger sequencing. A total of 11 distinct FOXL2 pathogenic variants were identified in our cohort (molecular diagnostic rate of 92%), including 5 novel mutations. Our results broaden the BPES-related mutational spectrum and supports considerable FOXL2 allelic heterogeneity in our population.
•First molecular analysis of FOXL2 gene in Mexican cohort with BPES syndrome•92% of all patients had heterozygous pathogenic variant.•Five novel mutations were identified.•Two changes identified may be associated to POF.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>31048069</pmid><doi>10.1016/j.gene.2019.04.073</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-9716-8146</orcidid></addata></record> |
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subjects | Blepharophimosis Blepharophimosis-ptosis-epicanthus inversus BPES Epicanthus FOXL2 Poly-alanine-tract Premature ovarian failure (POF) Ptosis Telecanthus |
title | Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus |
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