GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?
We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly‐like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes e...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2006-12, Vol.140A (23), p.2571-2576 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Rahimov, Fedik Ribeiro, Lucilene Arilho de Miranda, Eziquiel Richieri-Costa, Antonio Murray, Jeffrey C. |
| description | We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly‐like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly‐like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient. © 2006 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.31370 |
| format | Article |
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This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly‐like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly‐like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly‐like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient. © 2006 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Adolescent</subject><subject>Anophthalmos - pathology</subject><subject>Biological and medical sciences</subject><subject>branchial arch anomalies</subject><subject>Brazil</subject><subject>Central Nervous System - abnormalities</subject><subject>Central Nervous System - diagnostic imaging</subject><subject>Child</subject><subject>double heterozygotes</subject><subject>Facial Bones - abnormalities</subject><subject>Female</subject><subject>holoprosencephaly</subject><subject>Holoprosencephaly - genetics</subject><subject>Holoprosencephaly - pathology</subject><subject>holoprosencephaly-like phenotype</subject><subject>Humans</subject><subject>Kruppel-Like Transcription Factors - genetics</subject><subject>Magnetic Resonance Imaging</subject><subject>Malformations of the nervous system</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>missense mutations</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Nose - abnormalities</subject><subject>Nuclear Proteins - genetics</subject><subject>Phenotype</subject><subject>PTCH</subject><subject>Radiography</subject><subject>Zinc Finger Protein Gli2</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtPGzEURi1UxCPtrmvkTbtiUr_t6aYCVAJVWloJQXfWjccDpvPCnlGa_voOJMCO1b3SPd93pYPQe0qmlBD2Ce7qmylMOeWabKE9KiXLhOH8zfPO5C7aT-mOEE6kVjtol2qSK07NHrqYzc8Zroce-tA2CYcGl-0Q8XGEf6EK0OBuvPimT5_xWbvEy1B4HBLubz3ubn3T9qsuOJw67_o41F_eou0SquTfbeYEXZ5-vTw5y-YXs_OTo3nmhNIkE9I4JopcMtAlEY6WoICDFsbkUoAy4ESuCr8geUFy41SRl4UvjeKk4GLBJ-jjuraL7f3gU2_rkJyvKmh8OySrDDWajRYm6HANutimFH1puxhqiCtLiX3wZx_8WbCP_kb8YNM7LGpfvMAbYSPwYQNAclCVERoX0gtnuDKE6ZHja24ZKr969ak9-vZ99vQ-W6dC6v3f5xTEP1ZprqW9_jGzP39peXXKflvC_wNrXpeZ</recordid><startdate>20061201</startdate><enddate>20061201</enddate><creator>Rahimov, Fedik</creator><creator>Ribeiro, Lucilene Arilho</creator><creator>de Miranda, Eziquiel</creator><creator>Richieri-Costa, Antonio</creator><creator>Murray, Jeffrey C.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><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>20061201</creationdate><title>GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?</title><author>Rahimov, Fedik ; Ribeiro, Lucilene Arilho ; de Miranda, Eziquiel ; Richieri-Costa, Antonio ; Murray, Jeffrey C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4670-458c24d952a7f04c1fa6a3a7488954a68ac496deb09d098c6d9fdef8630d34b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Adolescent</topic><topic>Anophthalmos - pathology</topic><topic>Biological and medical sciences</topic><topic>branchial arch anomalies</topic><topic>Brazil</topic><topic>Central Nervous System - abnormalities</topic><topic>Central Nervous System - diagnostic imaging</topic><topic>Child</topic><topic>double heterozygotes</topic><topic>Facial Bones - abnormalities</topic><topic>Female</topic><topic>holoprosencephaly</topic><topic>Holoprosencephaly - genetics</topic><topic>Holoprosencephaly - pathology</topic><topic>holoprosencephaly-like phenotype</topic><topic>Humans</topic><topic>Kruppel-Like Transcription Factors - genetics</topic><topic>Magnetic Resonance Imaging</topic><topic>Malformations of the nervous system</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>missense mutations</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Nose - abnormalities</topic><topic>Nuclear Proteins - genetics</topic><topic>Phenotype</topic><topic>PTCH</topic><topic>Radiography</topic><topic>Zinc Finger Protein Gli2</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rahimov, Fedik</creatorcontrib><creatorcontrib>Ribeiro, Lucilene Arilho</creatorcontrib><creatorcontrib>de Miranda, Eziquiel</creatorcontrib><creatorcontrib>Richieri-Costa, Antonio</creatorcontrib><creatorcontrib>Murray, Jeffrey C.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><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>American journal of medical genetics. 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Genet</addtitle><date>2006-12-01</date><risdate>2006</risdate><volume>140A</volume><issue>23</issue><spage>2571</spage><epage>2576</epage><pages>2571-2576</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly‐like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly‐like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. 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| subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Adolescent Anophthalmos - pathology Biological and medical sciences branchial arch anomalies Brazil Central Nervous System - abnormalities Central Nervous System - diagnostic imaging Child double heterozygotes Facial Bones - abnormalities Female holoprosencephaly Holoprosencephaly - genetics Holoprosencephaly - pathology holoprosencephaly-like phenotype Humans Kruppel-Like Transcription Factors - genetics Magnetic Resonance Imaging Malformations of the nervous system Medical genetics Medical sciences missense mutations Mutation Neurology Nose - abnormalities Nuclear Proteins - genetics Phenotype PTCH Radiography Zinc Finger Protein Gli2 |
| title | GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum? |
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