Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2
The molecular basis of male disorders of sex development (DSD) remains unexplained in a large number of cases. EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield addition...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2014-10, Vol.164A (10), p.2618-2622 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Piard, Juliette Mignot, Brigitte Arbez-Gindre, Francine Aubert, Didier Morel, Yves Roze, Virginie McElreavy, Kenneth Jonveaux, Philippe Valduga, Mylène Van Maldergem, Lionel |
| description | The molecular basis of male disorders of sex development (DSD) remains unexplained in a large number of cases. EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield additional support to this hypothesis by reporting on a male patient who presented with 46,XY DSD, a single kidney, intellectual disability, and the smallest microdeletion including EMX2 reported to date. EMX2 haploinsufficiency is likely to explain the masculinization defect observed in our patient, similar to what has been described in the mouse. In the case of cytogenetically diagnosed cases, deletions of EMX2 have been associated with a wide range of DSD, ranging from hypospadias to complete sex reversal. © 2014 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/ajmg.a.36662 |
| format | Article |
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EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield additional support to this hypothesis by reporting on a male patient who presented with 46,XY DSD, a single kidney, intellectual disability, and the smallest microdeletion including EMX2 reported to date. EMX2 haploinsufficiency is likely to explain the masculinization defect observed in our patient, similar to what has been described in the mouse. In the case of cytogenetically diagnosed cases, deletions of EMX2 have been associated with a wide range of DSD, ranging from hypospadias to complete sex reversal. © 2014 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.36662</identifier><identifier>PMID: 24975717</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>46, XY Disorders of Sex Development ; 46, XY Disorders of Sex Development - genetics ; Child, Preschool ; Chromosomes, Human, Pair 10 ; Chromosomes, Human, Pair 10 - genetics ; Disorders of Sex Development ; Disorders of Sex Development - genetics ; EMX2 ; EMX2 and DSD ; Homeodomain Proteins ; Homeodomain Proteins - genetics ; Humans ; intellectual disability and EMX2 ; Life Sciences ; Male ; microdeletion and DSD ; Phenotype ; Sequence Deletion ; Sequence Deletion - genetics ; sex differentiation disorder ; Transcription Factors ; Transcription Factors - genetics</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>The molecular basis of male disorders of sex development (DSD) remains unexplained in a large number of cases. EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield additional support to this hypothesis by reporting on a male patient who presented with 46,XY DSD, a single kidney, intellectual disability, and the smallest microdeletion including EMX2 reported to date. EMX2 haploinsufficiency is likely to explain the masculinization defect observed in our patient, similar to what has been described in the mouse. In the case of cytogenetically diagnosed cases, deletions of EMX2 have been associated with a wide range of DSD, ranging from hypospadias to complete sex reversal. © 2014 Wiley Periodicals, Inc.</description><subject>46, XY Disorders of Sex Development</subject><subject>46, XY Disorders of Sex Development - genetics</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 10</subject><subject>Chromosomes, Human, Pair 10 - genetics</subject><subject>Disorders of Sex Development</subject><subject>Disorders of Sex Development - genetics</subject><subject>EMX2</subject><subject>EMX2 and DSD</subject><subject>Homeodomain Proteins</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>intellectual disability and EMX2</subject><subject>Life Sciences</subject><subject>Male</subject><subject>microdeletion and DSD</subject><subject>Phenotype</subject><subject>Sequence Deletion</subject><subject>Sequence Deletion - genetics</subject><subject>sex differentiation disorder</subject><subject>Transcription Factors</subject><subject>Transcription Factors - genetics</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUtv1DAUhS0EoqWwY428BIkEP-LrzHJaleljBpAAwc5ykpvWbR4zdqbt7Lrlb_JL8DTtLPHGx1ffOdL1IeQtZylnTHyyV-1FalMJAOIZ2edKiSTLpXy-00LtkVchXDEmmdLwkuyJbKKV5nqfXH_HG_RIA97RytV11N3g7OD6Lr5D7yv01HXU0qLf0Fs3XEYp0_zv_Z9FQTlbCZXKZCUg5YK2rvR9hQ0-2LEr-3ZpQ3DdBT1e_BavyYvaNgHfPN4H5Ofn4x9HJ8n86-z0aDpPyozlIkHBWV2XUGhgqAArxSsuSplryEGJeErFLJcVcDaxrCwYWkSmKiHjxObygHwYcy9tY5betdZvTG-dOZnOzXbGOEwmSsANj-z7kV36frXGMJjWhRKbxnbYr4PhCgQA1zqL6McRjUuG4LHeZXNmtlWYbRXGmocqIv7uMXldtFjt4Ke_j0A2Areuwc1_w8z0bDGbPuUmo82FAe92NuuvDWiplfn1ZWbO4fzwTH2bGSn_AdwdoXM</recordid><startdate>201410</startdate><enddate>201410</enddate><creator>Piard, Juliette</creator><creator>Mignot, Brigitte</creator><creator>Arbez-Gindre, Francine</creator><creator>Aubert, Didier</creator><creator>Morel, Yves</creator><creator>Roze, Virginie</creator><creator>McElreavy, Kenneth</creator><creator>Jonveaux, Philippe</creator><creator>Valduga, Mylène</creator><creator>Van Maldergem, Lionel</creator><general>Blackwell Publishing Ltd</general><general>Wiley</general><scope>BSCLL</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><scope>1XC</scope><orcidid>https://orcid.org/0000-0001-8880-5214</orcidid></search><sort><creationdate>201410</creationdate><title>Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2</title><author>Piard, Juliette ; Mignot, Brigitte ; Arbez-Gindre, Francine ; Aubert, Didier ; Morel, Yves ; Roze, Virginie ; McElreavy, Kenneth ; Jonveaux, Philippe ; Valduga, Mylène ; Van Maldergem, Lionel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4082-e210ffc6b760e56ed51d12c38768652222c50a13d6109a0cb0eaee05d23610a83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>46, XY Disorders of Sex Development</topic><topic>46, XY Disorders of Sex Development - genetics</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, Pair 10</topic><topic>Chromosomes, Human, Pair 10 - genetics</topic><topic>Disorders of Sex Development</topic><topic>Disorders of Sex Development - genetics</topic><topic>EMX2</topic><topic>EMX2 and DSD</topic><topic>Homeodomain Proteins</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>intellectual disability and EMX2</topic><topic>Life Sciences</topic><topic>Male</topic><topic>microdeletion and DSD</topic><topic>Phenotype</topic><topic>Sequence Deletion</topic><topic>Sequence Deletion - genetics</topic><topic>sex differentiation disorder</topic><topic>Transcription Factors</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Piard, Juliette</creatorcontrib><creatorcontrib>Mignot, Brigitte</creatorcontrib><creatorcontrib>Arbez-Gindre, Francine</creatorcontrib><creatorcontrib>Aubert, Didier</creatorcontrib><creatorcontrib>Morel, Yves</creatorcontrib><creatorcontrib>Roze, Virginie</creatorcontrib><creatorcontrib>McElreavy, Kenneth</creatorcontrib><creatorcontrib>Jonveaux, Philippe</creatorcontrib><creatorcontrib>Valduga, Mylène</creatorcontrib><creatorcontrib>Van Maldergem, Lionel</creatorcontrib><collection>Istex</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><collection>Hyper Article en Ligne (HAL)</collection><jtitle>American journal of medical genetics. 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EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield additional support to this hypothesis by reporting on a male patient who presented with 46,XY DSD, a single kidney, intellectual disability, and the smallest microdeletion including EMX2 reported to date. EMX2 haploinsufficiency is likely to explain the masculinization defect observed in our patient, similar to what has been described in the mouse. In the case of cytogenetically diagnosed cases, deletions of EMX2 have been associated with a wide range of DSD, ranging from hypospadias to complete sex reversal. © 2014 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>24975717</pmid><doi>10.1002/ajmg.a.36662</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0001-8880-5214</orcidid></addata></record> |
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| ispartof | American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2618-2622 |
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| subjects | 46, XY Disorders of Sex Development 46, XY Disorders of Sex Development - genetics Child, Preschool Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 10 - genetics Disorders of Sex Development Disorders of Sex Development - genetics EMX2 EMX2 and DSD Homeodomain Proteins Homeodomain Proteins - genetics Humans intellectual disability and EMX2 Life Sciences Male microdeletion and DSD Phenotype Sequence Deletion Sequence Deletion - genetics sex differentiation disorder Transcription Factors Transcription Factors - genetics |
| title | Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2 |
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