Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
Identifieur interne : 000000 ( Pmc/Curation ); suivant : 000001Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
Auteurs : Sandy Léger [France] ; Xavier Balguerie [France] ; Alice Goldenberg [France] ; Valérie Drouin-Garraud [France] ; Annick Cabot [France] ; Isabelle Amstutz-Montadert [France] ; Paul Young [France] ; Pascal Joly [France] ; Virginie Bodereau [France] ; Muriel Holder-Espinasse [France] ; Robyn V. Jamieson [Australie] ; Amanda Krause [Afrique du Sud] ; Hongsheng Chen [République populaire de Chine] ; Clarisse Baumann [France] ; Luis Nunes [Portugal] ; Hélène Dollfus [France] ; Michel Goossens [France] ; Véronique Pingault [France]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2012.
Abstract
The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss. Twelve patients with new or recurrent non-truncating mutations of the MITF basic domain from six families were enrolled in this study. We observed a wide range of phenotypes and some unexpected features. All the patients had blue irides and pigmentation abnormalities that ranged from diffuse hypopigmentation to Waardenburg-like patches. In addition, they showed congenital complete hearing loss, diffuse hypopigmentation of the skin, freckling and ocular abnormalities, more frequently than patients with MITF mutations outside the basic domain. In conclusion, the non-truncating mutations of the basic domain do not always lead to Tietz syndrome but rather to a large range of phenotypes. Sun-exposed freckles are interestingly observed more frequently in Asian populations. This variability argues for the possible interaction with modifier loci.
Url:
DOI: 10.1038/ejhg.2011.234
PubMed: 22258527
PubMed Central: 3330215
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes</title><author><name sortKey="Leger, Sandy" sort="Leger, Sandy" uniqKey="Leger S" first="Sandy" last="Léger">Sandy Léger</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinique Dermatologique, INSERM U905, Rouen University Hospital</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Balguerie, Xavier" sort="Balguerie, Xavier" uniqKey="Balguerie X" first="Xavier" last="Balguerie">Xavier Balguerie</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinique Dermatologique, INSERM U905, Rouen University Hospital</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Service de Génétique Clinique, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Drouin Garraud, Valerie" sort="Drouin Garraud, Valerie" uniqKey="Drouin Garraud V" first="Valérie" last="Drouin-Garraud">Valérie Drouin-Garraud</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Service de Génétique Clinique, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cabot, Annick" sort="Cabot, Annick" uniqKey="Cabot A" first="Annick" last="Cabot">Annick Cabot</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Service d'Ophtalmologie, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Amstutz Montadert, Isabelle" sort="Amstutz Montadert, Isabelle" uniqKey="Amstutz Montadert I" first="Isabelle" last="Amstutz-Montadert">Isabelle Amstutz-Montadert</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Service d'Oto-Rhino-Laryngologie, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Young, Paul" sort="Young, Paul" uniqKey="Young P" first="Paul" last="Young">Paul Young</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Cabinet privé de dermatologie</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Joly, Pascal" sort="Joly, Pascal" uniqKey="Joly P" first="Pascal" last="Joly">Pascal Joly</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinique Dermatologique, INSERM U905, Rouen University Hospital</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bodereau, Virginie" sort="Bodereau, Virginie" uniqKey="Bodereau V" first="Virginie" last="Bodereau">Virginie Bodereau</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>AP-HP, Hopital Henri Mondor – A. 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Jacinta Marto</institution>, Lisboa,<country>Portugal</country></nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Faculdade de Ciências Médicas</institution>, Lisboa,<country>Portugal</country></nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Service de Génétique Médicale, Hôpital de Hautepierre, Avenue Molière</institution>, Strasbourg,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Goossens, Michel" sort="Goossens, Michel" uniqKey="Goossens M" first="Michel" last="Goossens">Michel Goossens</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>AP-HP, Hopital Henri Mondor – A. Chenevier, Service de Biochimie et Genetique</institution>, Creteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>INSERM, U955</institution>, Créteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Université Paris Est, Faculté de Médecine</institution>, Créteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Pingault, Veronique" sort="Pingault, Veronique" uniqKey="Pingault V" first="Véronique" last="Pingault">Véronique Pingault</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>AP-HP, Hopital Henri Mondor – A. Chenevier, Service de Biochimie et Genetique</institution>, Creteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>INSERM, U955</institution>, Créteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Université Paris Est, Faculté de Médecine</institution>, Créteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22258527</idno><idno type="pmc">3330215</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330215</idno><idno type="RBID">PMC:3330215</idno><idno type="doi">10.1038/ejhg.2011.234</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000000</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000000</idno><idno type="wicri:Area/Pmc/Curation">000000</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000000</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes</title><author><name sortKey="Leger, Sandy" sort="Leger, Sandy" uniqKey="Leger S" first="Sandy" last="Léger">Sandy Léger</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinique Dermatologique, INSERM U905, Rouen University Hospital</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Balguerie, Xavier" sort="Balguerie, Xavier" uniqKey="Balguerie X" first="Xavier" last="Balguerie">Xavier Balguerie</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinique Dermatologique, INSERM U905, Rouen University Hospital</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Service de Génétique Clinique, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Drouin Garraud, Valerie" sort="Drouin Garraud, Valerie" uniqKey="Drouin Garraud V" first="Valérie" last="Drouin-Garraud">Valérie Drouin-Garraud</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Service de Génétique Clinique, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cabot, Annick" sort="Cabot, Annick" uniqKey="Cabot A" first="Annick" last="Cabot">Annick Cabot</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Service d'Ophtalmologie, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Amstutz Montadert, Isabelle" sort="Amstutz Montadert, Isabelle" uniqKey="Amstutz Montadert I" first="Isabelle" last="Amstutz-Montadert">Isabelle Amstutz-Montadert</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Service d'Oto-Rhino-Laryngologie, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Young, Paul" sort="Young, Paul" uniqKey="Young P" first="Paul" last="Young">Paul Young</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Cabinet privé de dermatologie</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Joly, Pascal" sort="Joly, Pascal" uniqKey="Joly P" first="Pascal" last="Joly">Pascal Joly</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinique Dermatologique, INSERM U905, Rouen University Hospital</institution>, Rouen,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bodereau, Virginie" sort="Bodereau, Virginie" uniqKey="Bodereau V" first="Virginie" last="Bodereau">Virginie Bodereau</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>AP-HP, Hopital Henri Mondor – A. Chenevier, Service de Biochimie et Genetique</institution>, Creteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Holder Espinasse, Muriel" sort="Holder Espinasse, Muriel" uniqKey="Holder Espinasse M" first="Muriel" last="Holder-Espinasse">Muriel Holder-Espinasse</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Service de Génétique Clinique, Hôpital Jeanne de Flandre</institution>, Lille,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Jamieson, Robyn V" sort="Jamieson, Robyn V" uniqKey="Jamieson R" first="Robyn V" last="Jamieson">Robyn V. Jamieson</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Eye Genetics Research Group, The Children's Hospital at Westmead, Children's Medical Research Institute and Save Sight Institute & University of Sydney</institution>, Sydney, New South Wales,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Krause, Amanda" sort="Krause, Amanda" uniqKey="Krause A" first="Amanda" last="Krause">Amanda Krause</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand</institution>, Johannesburg,<country>South Africa</country></nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chen, Hongsheng" sort="Chen, Hongsheng" uniqKey="Chen H" first="Hongsheng" last="Chen">Hongsheng Chen</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Department of Otolaryngology, Xiangya Hospital, Central South University</institution>, Changsha,<country>PR China</country></nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Service de Génétique Clinique, Hôpital Robert Debré, AP-HP</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Nunes, Luis" sort="Nunes, Luis" uniqKey="Nunes L" first="Luis" last="Nunes">Luis Nunes</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Serviço de Genética Médica, Hospital de Dona Estefania, R. Jacinta Marto</institution>, Lisboa,<country>Portugal</country></nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Faculdade de Ciências Médicas</institution>, Lisboa,<country>Portugal</country></nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Service de Génétique Médicale, Hôpital de Hautepierre, Avenue Molière</institution>, Strasbourg,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Goossens, Michel" sort="Goossens, Michel" uniqKey="Goossens M" first="Michel" last="Goossens">Michel Goossens</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>AP-HP, Hopital Henri Mondor – A. Chenevier, Service de Biochimie et Genetique</institution>, Creteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>INSERM, U955</institution>, Créteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Université Paris Est, Faculté de Médecine</institution>, Créteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Pingault, Veronique" sort="Pingault, Veronique" uniqKey="Pingault V" first="Véronique" last="Pingault">Véronique Pingault</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>AP-HP, Hopital Henri Mondor – A. Chenevier, Service de Biochimie et Genetique</institution>, Creteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>INSERM, U955</institution>, Créteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Université Paris Est, Faculté de Médecine</institution>, Créteil,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss. Twelve patients with new or recurrent non-truncating mutations of the MITF basic domain from six families were enrolled in this study. We observed a wide range of phenotypes and some unexpected features. All the patients had blue irides and pigmentation abnormalities that ranged from diffuse hypopigmentation to Waardenburg-like patches. In addition, they showed congenital complete hearing loss, diffuse hypopigmentation of the skin, freckling and ocular abnormalities, more frequently than patients with MITF mutations outside the basic domain. In conclusion, the non-truncating mutations of the basic domain do not always lead to Tietz syndrome but rather to a large range of phenotypes. Sun-exposed freckles are interestingly observed more frequently in Asian populations. This variability argues for the possible interaction with modifier loci.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id><journal-title-group><journal-title>European Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">1018-4813</issn><issn pub-type="epub">1476-5438</issn><publisher><publisher-name>Nature Publishing Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22258527</article-id><article-id pub-id-type="pmc">3330215</article-id><article-id pub-id-type="pii">ejhg2011234</article-id><article-id pub-id-type="doi">10.1038/ejhg.2011.234</article-id><article-categories><subj-group subj-group-type="heading"><subject>Short Report</subject></subj-group></article-categories><title-group><article-title>Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes</article-title><alt-title alt-title-type="running">Non-truncating mutations of the MITF basic domain</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Léger</surname><given-names>Sandy</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Balguerie</surname><given-names>Xavier</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Goldenberg</surname><given-names>Alice</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Drouin-Garraud</surname><given-names>Valérie</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Cabot</surname><given-names>Annick</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Amstutz-Montadert</surname><given-names>Isabelle</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Young</surname><given-names>Paul</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Joly</surname><given-names>Pascal</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bodereau</surname><given-names>Virginie</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Holder-Espinasse</surname><given-names>Muriel</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Jamieson</surname><given-names>Robyn V</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Krause</surname><given-names>Amanda</given-names></name><xref ref-type="aff" rid="aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>Chen</surname><given-names>Hongsheng</given-names></name><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>Baumann</surname><given-names>Clarisse</given-names></name><xref ref-type="aff" rid="aff11">11</xref></contrib><contrib contrib-type="author"><name><surname>Nunes</surname><given-names>Luis</given-names></name><xref ref-type="aff" rid="aff12">12</xref><xref ref-type="aff" rid="aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Dollfus</surname><given-names>Hélène</given-names></name><xref ref-type="aff" rid="aff14">14</xref></contrib><contrib contrib-type="author"><name><surname>Goossens</surname><given-names>Michel</given-names></name><xref ref-type="aff" rid="aff6">6</xref><xref ref-type="aff" rid="aff15">15</xref><xref ref-type="aff" rid="aff16">16</xref></contrib><contrib contrib-type="author"><name><surname>Pingault</surname><given-names>Véronique</given-names></name><xref ref-type="aff" rid="aff6">6</xref><xref ref-type="aff" rid="aff15">15</xref><xref ref-type="aff" rid="aff16">16</xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><aff id="aff1"><label>1</label><institution>Clinique Dermatologique, INSERM U905, Rouen University Hospital</institution>, Rouen,<country>France</country></aff><aff id="aff2"><label>2</label><institution>Service de Génétique Clinique, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></aff><aff id="aff3"><label>3</label><institution>Service d'Ophtalmologie, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></aff><aff id="aff4"><label>4</label><institution>Service d'Oto-Rhino-Laryngologie, Hôpital Charles Nicolle</institution>, Rouen,<country>France</country></aff><aff id="aff5"><label>5</label><institution>Cabinet privé de dermatologie</institution>, Rouen,<country>France</country></aff><aff id="aff6"><label>6</label><institution>AP-HP, Hopital Henri Mondor – A. Chenevier, Service de Biochimie et Genetique</institution>, Creteil,<country>France</country></aff><aff id="aff7"><label>7</label><institution>Service de Génétique Clinique, Hôpital Jeanne de Flandre</institution>, Lille,<country>France</country></aff><aff id="aff8"><label>8</label><institution>Eye Genetics Research Group, The Children's Hospital at Westmead, Children's Medical Research Institute and Save Sight Institute & University of Sydney</institution>, Sydney, New South Wales,<country>Australia</country></aff><aff id="aff9"><label>9</label><institution>Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand</institution>, Johannesburg,<country>South Africa</country></aff><aff id="aff10"><label>10</label><institution>Department of Otolaryngology, Xiangya Hospital, Central South University</institution>, Changsha,<country>PR China</country></aff><aff id="aff11"><label>11</label><institution>Service de Génétique Clinique, Hôpital Robert Debré, AP-HP</institution>, Paris,<country>France</country></aff><aff id="aff12"><label>12</label><institution>Serviço de Genética Médica, Hospital de Dona Estefania, R. Jacinta Marto</institution>, Lisboa,<country>Portugal</country></aff><aff id="aff13"><label>13</label><institution>Faculdade de Ciências Médicas</institution>, Lisboa,<country>Portugal</country></aff><aff id="aff14"><label>14</label><institution>Service de Génétique Médicale, Hôpital de Hautepierre, Avenue Molière</institution>, Strasbourg,<country>France</country></aff><aff id="aff15"><label>15</label><institution>INSERM, U955</institution>, Créteil,<country>France</country></aff><aff id="aff16"><label>16</label><institution>Université Paris Est, Faculté de Médecine</institution>, Créteil,<country>France</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>Laboratoire de Biochimie et Genetique, Hopital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny</institution>, 94010 Créteil Cedex, <country>France</country>. Tel: +33 1 49 81 28 49; Fax: +33 1 49 81 22 19; E-mail: <email>veronique.pingault@inserm.fr</email></corresp></author-notes><pub-date pub-type="ppub"><month>05</month><year>2012</year></pub-date><pub-date pub-type="epub"><day>18</day><month>01</month><year>2012</year></pub-date><volume>20</volume><issue>5</issue><fpage>584</fpage><lpage>587</lpage><history><date date-type="received"><day>17</day><month>08</month><year>2011</year></date><date date-type="rev-recd"><day>28</day><month>10</month><year>2011</year></date><date date-type="accepted"><day>08</day><month>11</month><year>2011</year></date></history><permissions><copyright-statement>Copyright © 2012 Macmillan Publishers Limited</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss. Twelve patients with new or recurrent non-truncating mutations of the MITF basic domain from six families were enrolled in this study. We observed a wide range of phenotypes and some unexpected features. All the patients had blue irides and pigmentation abnormalities that ranged from diffuse hypopigmentation to Waardenburg-like patches. In addition, they showed congenital complete hearing loss, diffuse hypopigmentation of the skin, freckling and ocular abnormalities, more frequently than patients with MITF mutations outside the basic domain. In conclusion, the non-truncating mutations of the basic domain do not always lead to Tietz syndrome but rather to a large range of phenotypes. Sun-exposed freckles are interestingly observed more frequently in Asian populations. This variability argues for the possible interaction with modifier loci.</p></abstract><kwd-group><kwd>Waardenburg syndrome</kwd><kwd>Tietz syndrome</kwd><kwd>MITF</kwd><kwd>freckles</kwd><kwd>pigmentation</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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