AustralieFrV1, Main, Exploration, bibRecord, 00AF85

X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum

Identifieur interne : 00AF85 ( Main/Exploration ); précédent : 00AF84; suivant : 00AF86

X-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 Rodriguez 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 [ 0148-7299 ] ; 2003.

RBID : Pascal:03-0500813

Descripteurs français

Pascal (Inist)
- G syndrome, Homme, Caractère lié au sexe, Hypertélorisme, Chromosome X, Déterminisme génétique, Hypospadias, Pathogénie, Mutation, Gène, Phénotype, Hétérogénéité, Ligne médiane.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- G syndrome, Gene, Genetic determinism, Heterogeneity, Human, Hypertelorism, Hypospadias, Mutation, Pathogenesis, Phenotype, Sex linked character, X-Chromosome.

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, MIDI, 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 MIDI 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 MIDI-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 MIDI-mutated patient showing syndactyly. The low frequency of mutations in MIDI and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype.

Affiliations:

Australie, Autriche, Canada, Espagne, France, Italie, Royaume-Uni, États-Unis
Angleterre, Grand Londres, Maryland, Ontario, Région Bretagne
Londres, Rennes, Toronto
Université de Toronto

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 005139
to stream PascalFrancis, to step Curation: 000F87
to stream PascalFrancis, to step Checkpoint: 004D40
to stream Main, to step Merge: 00BD25
to stream Main, to step Curation: 00AF85

Le document en format XML

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<placeName><settlement type="city">Londres</settlement>
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<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"><inist:fA14 i1="10"><s1>Children's and Women's Hospital</s1>
<s2>Vancouver</s2>
<s3>CAN</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Children's and Women's Hospital</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"><inist:fA14 i1="01"><s1>Telethon Institute of Genetics and Medicine</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Telethon Institute of Genetics and Medicine</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"><inist:fA14 i1="01"><s1>Telethon Institute of Genetics and Medicine</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Telethon Institute of Genetics and Medicine</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"><inist:fA14 i1="01"><s1>Telethon Institute of Genetics and Medicine</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Telethon Institute of Genetics and Medicine</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of medical genetics</title>
<title level="j" type="abbreviated">Am. j. med. genet.</title>
<idno type="ISSN">0148-7299</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of medical genetics</title>
<title level="j" type="abbreviated">Am. j. med. genet.</title>
<idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>G syndrome</term>
<term>Gene</term>
<term>Genetic determinism</term>
<term>Heterogeneity</term>
<term>Human</term>
<term>Hypertelorism</term>
<term>Hypospadias</term>
<term>Mutation</term>
<term>Pathogenesis</term>
<term>Phenotype</term>
<term>Sex linked character</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>G syndrome</term>
<term>Homme</term>
<term>Caractère lié au sexe</term>
<term>Hypertélorisme</term>
<term>Chromosome X</term>
<term>Déterminisme génétique</term>
<term>Hypospadias</term>
<term>Pathogénie</term>
<term>Mutation</term>
<term>Gène</term>
<term>Phénotype</term>
<term>Hétérogénéité</term>
<term>Ligne médiane</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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, MIDI, 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 MIDI 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 MIDI-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 MIDI-mutated patient showing syndactyly. The low frequency of mutations in MIDI and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype.</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>Maryland</li>
<li>Ontario</li>
<li>Région Bretagne</li>
</region>
<settlement><li>Londres</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="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="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>
</country>
<country name="Espagne"><noRegion><name sortKey="Rodriguez Criado, German" sort="Rodriguez Criado, German" uniqKey="Rodriguez Criado G" first="German" last="Rodriguez Criado">German Rodriguez 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>

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X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum

X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum

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