X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum
Identifieur interne : 00AE63 ( Main/Exploration ); précédent : 00AE62; suivant : 00AE64X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum
Auteurs : Francesca De Falco [Italie] ; Silvia Cainarca [Italie] ; Grazia Andolfi [Italie] ; Rosa Ferrentino [Italie] ; Caterina Berti [Italie] ; German Rodríguez Criado [Espagne] ; Olaf Rittinger [Autriche] ; Nick Dennis [Royaume-Uni] ; Sylvie Odent [France] ; Amit Rastogi [États-Unis] ; Jan Liebelt [Australie] ; David Chitayat [Canada] ; Robin Winter [Royaume-Uni] ; Harindar Jawanda [Canada] ; Andrea Ballabio [Italie] ; Brunella Franco [Italie] ; Germana Meroni [Italie]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2003-07-15.
English descriptors
- KwdEn :
- Abnormality, Anomaly, Anus, Bilateral cleft, Cleft, Corpus callosum, Defect, Developmental delay, Gaudenz, Genet, Hypertelorism, Hypoplastic scrotum, Hypospadias, Imperforate anus, Laryngeal, Laryngeal cleft, Main manifestations, Mid1, Mid1 gene, Mid1 mutations, Midline, Monozygotic twins, Mutation, Mutation analysis, Novel mutations, Opitz, Opitz syndrome, Palate, Pedigree, Phenotype, Quaderi, Robin, Same mutation, Sporadic patient, Syndrome, Xlos.
- Teeft :
- Abnormality, Anomaly, Anus, Bilateral cleft, Cleft, Corpus callosum, Defect, Developmental delay, Gaudenz, Genet, Hypertelorism, Hypoplastic scrotum, Hypospadias, Imperforate anus, Laryngeal, Laryngeal cleft, Main manifestations, Mid1, Mid1 gene, Mid1 mutations, Midline, Monozygotic twins, Mutation, Mutation analysis, Novel mutations, Opitz, Opitz syndrome, Palate, Pedigree, Phenotype, Quaderi, Robin, Same mutation, Sporadic patient, Syndrome, Xlos.
Abstract
Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X‐linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MID1, encodes a protein containing a RING‐Bbox‐Coiled‐coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the MID1 gene in patients with Opitz syndrome (OS). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or familial X‐linked OS cases. The mutations are scattered throughout the gene, although more are represented in the 3′ region. By reviewing all the MID1‐mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. However, it is clear that laryngo‐tracheo‐esophageal (LTE) defects are also common anomalies, being manifested by all MID1‐mutated male patients. Congenital heart and anal abnormalities are less frequent than reported in literature. In addition, we can include limb defects in the OS clinical synopsis as we found a MID1‐mutated patient showing syndactyly. The low frequency of mutations in MID1 and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype. © 2003 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.10265
Affiliations:
- Australie, Autriche, Canada, Espagne, France, Italie, Royaume-Uni, États-Unis
- Angleterre, Grand Londres, Lombardie, Maryland, Ontario, Région Bretagne
- Londres, Milan, Rennes, Toronto
- Université de Toronto
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Le document en format XML
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first="Francesca" last="De Falco">Francesca De Falco</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Telethon Institute of Genetics and Medicine, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Cainarca, Silvia" sort="Cainarca, Silvia" uniqKey="Cainarca S" first="Silvia" last="Cainarca">Silvia Cainarca</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Telethon Institute of Genetics and Medicine, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Current Address: San Raffaele Scientific Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Andolfi, Grazia" sort="Andolfi, Grazia" uniqKey="Andolfi G" 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Salzburg</wicri:regionArea><wicri:noRegion>Salzburg</wicri:noRegion></affiliation></author><author><name sortKey="Dennis, Nick" sort="Dennis, Nick" uniqKey="Dennis N" first="Nick" last="Dennis">Nick Dennis</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Division of Human Genetics, Princess Anne Hospital Southampton, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Génétique médicale, Hopital Pontchaillou, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Rastogi, Amit" sort="Rastogi, Amit" uniqKey="Rastogi A" first="Amit" last="Rastogi">Amit Rastogi</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Liebelt, Jan" sort="Liebelt, Jan" uniqKey="Liebelt J" first="Jan" last="Liebelt">Jan Liebelt</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Clinical Genetics Service, Women's and Children's Hospital, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>The Hospital for Sick Children, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Winter, Robin" sort="Winter, Robin" uniqKey="Winter R" first="Robin" last="Winter">Robin Winter</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical and Molecular Genetics, Institute of Child Health, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jawanda, Harindar" sort="Jawanda, Harindar" uniqKey="Jawanda H" first="Harindar" last="Jawanda">Harindar Jawanda</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Children's and Women's Hospital, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Ballabio, Andrea" sort="Ballabio, Andrea" uniqKey="Ballabio A" first="Andrea" last="Ballabio">Andrea Ballabio</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Telethon Institute of Genetics and Medicine, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Franco, Brunella" sort="Franco, Brunella" uniqKey="Franco B" first="Brunella" last="Franco">Brunella Franco</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Telethon Institute of Genetics and Medicine, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Meroni, Germana" sort="Meroni, Germana" uniqKey="Meroni G" first="Germana" last="Meroni">Germana Meroni</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Telethon Institute of Genetics and Medicine, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Italie</country></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Correspondence address: TIGEM (Telethon Institute of Genetics and Medicine), Via Pietro Castellino, 111, 80131 Naples</wicri:regionArea><wicri:noRegion>80131 Naples</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">120A</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="222">222</biblScope><biblScope unit="page" to="228">228</biblScope><biblScope unit="page-count">7</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-07-15">2003-07-15</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormality</term><term>Anomaly</term><term>Anus</term><term>Bilateral cleft</term><term>Cleft</term><term>Corpus callosum</term><term>Defect</term><term>Developmental delay</term><term>Gaudenz</term><term>Genet</term><term>Hypertelorism</term><term>Hypoplastic scrotum</term><term>Hypospadias</term><term>Imperforate anus</term><term>Laryngeal</term><term>Laryngeal cleft</term><term>Main manifestations</term><term>Mid1</term><term>Mid1 gene</term><term>Mid1 mutations</term><term>Midline</term><term>Monozygotic twins</term><term>Mutation</term><term>Mutation analysis</term><term>Novel mutations</term><term>Opitz</term><term>Opitz syndrome</term><term>Palate</term><term>Pedigree</term><term>Phenotype</term><term>Quaderi</term><term>Robin</term><term>Same mutation</term><term>Sporadic patient</term><term>Syndrome</term><term>Xlos</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Abnormality</term><term>Anomaly</term><term>Anus</term><term>Bilateral cleft</term><term>Cleft</term><term>Corpus callosum</term><term>Defect</term><term>Developmental delay</term><term>Gaudenz</term><term>Genet</term><term>Hypertelorism</term><term>Hypoplastic scrotum</term><term>Hypospadias</term><term>Imperforate anus</term><term>Laryngeal</term><term>Laryngeal cleft</term><term>Main manifestations</term><term>Mid1</term><term>Mid1 gene</term><term>Mid1 mutations</term><term>Midline</term><term>Monozygotic twins</term><term>Mutation</term><term>Mutation analysis</term><term>Novel mutations</term><term>Opitz</term><term>Opitz syndrome</term><term>Palate</term><term>Pedigree</term><term>Phenotype</term><term>Quaderi</term><term>Robin</term><term>Same mutation</term><term>Sporadic patient</term><term>Syndrome</term><term>Xlos</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X‐linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MID1, encodes a protein containing a RING‐Bbox‐Coiled‐coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the MID1 gene in patients with Opitz syndrome (OS). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or familial X‐linked OS cases. The mutations are scattered throughout the gene, although more are represented in the 3′ region. By reviewing all the MID1‐mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. However, it is clear that laryngo‐tracheo‐esophageal (LTE) defects are also common anomalies, being manifested by all MID1‐mutated male patients. Congenital heart and anal abnormalities are less frequent than reported in literature. In addition, we can include limb defects in the OS clinical synopsis as we found a MID1‐mutated patient showing syndactyly. The low frequency of mutations in MID1 and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype. © 2003 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Autriche</li><li>Canada</li><li>Espagne</li><li>France</li><li>Italie</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Lombardie</li><li>Maryland</li><li>Ontario</li><li>Région Bretagne</li></region><settlement><li>Londres</li><li>Milan</li><li>Rennes</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Italie"><noRegion><name sortKey="De Falco, Francesca" sort="De Falco, Francesca" uniqKey="De Falco F" first="Francesca" last="De Falco">Francesca De Falco</name></noRegion><name sortKey="Andolfi, Grazia" sort="Andolfi, Grazia" uniqKey="Andolfi G" first="Grazia" last="Andolfi">Grazia Andolfi</name><name sortKey="Andolfi, Grazia" sort="Andolfi, Grazia" uniqKey="Andolfi G" first="Grazia" last="Andolfi">Grazia Andolfi</name><name sortKey="Ballabio, Andrea" sort="Ballabio, Andrea" uniqKey="Ballabio A" first="Andrea" last="Ballabio">Andrea Ballabio</name><name sortKey="Berti, Caterina" sort="Berti, Caterina" uniqKey="Berti C" first="Caterina" last="Berti">Caterina Berti</name><name sortKey="Cainarca, Silvia" sort="Cainarca, Silvia" uniqKey="Cainarca S" first="Silvia" last="Cainarca">Silvia Cainarca</name><name sortKey="Cainarca, Silvia" sort="Cainarca, Silvia" uniqKey="Cainarca S" first="Silvia" last="Cainarca">Silvia Cainarca</name><name sortKey="Ferrentino, Rosa" sort="Ferrentino, Rosa" uniqKey="Ferrentino R" first="Rosa" last="Ferrentino">Rosa Ferrentino</name><name sortKey="Franco, Brunella" sort="Franco, Brunella" uniqKey="Franco B" first="Brunella" last="Franco">Brunella Franco</name><name sortKey="Meroni, Germana" sort="Meroni, Germana" uniqKey="Meroni G" first="Germana" last="Meroni">Germana Meroni</name><name sortKey="Meroni, Germana" sort="Meroni, Germana" uniqKey="Meroni G" first="Germana" last="Meroni">Germana Meroni</name><name sortKey="Meroni, Germana" sort="Meroni, Germana" uniqKey="Meroni G" first="Germana" last="Meroni">Germana Meroni</name></country><country name="Espagne"><noRegion><name sortKey="Rodriguez Criado, German" sort="Rodriguez Criado, German" uniqKey="Rodriguez Criado G" first="German" last="Rodríguez Criado">German Rodríguez Criado</name></noRegion></country><country name="Autriche"><noRegion><name sortKey="Rittinger, Olaf" sort="Rittinger, Olaf" uniqKey="Rittinger O" first="Olaf" last="Rittinger">Olaf Rittinger</name></noRegion></country><country name="Royaume-Uni"><noRegion><name sortKey="Dennis, Nick" sort="Dennis, Nick" uniqKey="Dennis N" first="Nick" last="Dennis">Nick Dennis</name></noRegion><name sortKey="Winter, Robin" sort="Winter, Robin" uniqKey="Winter R" first="Robin" last="Winter">Robin Winter</name></country><country name="France"><region name="Région Bretagne"><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name></region></country><country name="États-Unis"><region name="Maryland"><name sortKey="Rastogi, Amit" sort="Rastogi, Amit" uniqKey="Rastogi A" first="Amit" last="Rastogi">Amit Rastogi</name></region></country><country name="Australie"><noRegion><name sortKey="Liebelt, Jan" sort="Liebelt, Jan" uniqKey="Liebelt J" first="Jan" last="Liebelt">Jan Liebelt</name></noRegion></country><country name="Canada"><region name="Ontario"><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name></region><name sortKey="Jawanda, Harindar" sort="Jawanda, Harindar" uniqKey="Jawanda H" first="Harindar" last="Jawanda">Harindar Jawanda</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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