MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Identifieur interne : 008C08 ( Main/Exploration ); précédent : 008C07; suivant : 008C09MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Auteurs : Suzanna Gerarda Maria Prints [Pays-Bas] ; Steffen Lenzner [Allemagne] ; Mareike Bauters [Belgique] ; Lars Riff Jensen [Allemagne] ; Hilde Van Esch [Belgique] ; Vincent Des Portes [France] ; Ute Moog [Pays-Bas] ; Merryn Victor Erik Macville [Pays-Bas] ; Kees Van Roozendaal [Pays-Bas] ; Constance Theresia Rimbertha Maria Schrander-Stumpel [Pays-Bas] ; Andreas Tzschach [Allemagne] ; Peter Marynen [Belgique] ; Jean-Pierre Fryns [Belgique] ; Ben Hamel [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas] ; Jamel Chelly [France] ; Chérif Beldjord [France] ; Gillian Turner [Australie] ; Jozef Gecz [Australie] ; Claude Moraine [France] ; Martine Raynaud [France] ; Hans Hilger Ropers [Allemagne] ; Guy Froyen [Belgique] ; Andreas Walter Kuss [Allemagne]Source :
- European journal of human genetics [ 1018-4813 ] ; 2008.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
Abstract
Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS). We performed MCT8 mutation analysis including 13 XLMR families with LOD scores >2.0, 401 male MR sibships and 47 sporadic male patients with AHDS-like clinical features. One nonsense mutation (c.629insA) and two missense changes (c.1A>T and c.1673G>A) were identified. Consistent with previous reports on MCT8 missense changes, the patient with c.1673G>A showed elevated serum T3 level. The c.1A>T change in another patient affects a putative translation start codon, but the same change was present in his healthy brother. In addition normal serum T3 levels were present, suggesting that the c.1A>T (NM_006517) variation is not responsible for the MR phenotype but indicates that MCT8 translation likely starts with a methionine at position p.75. Moreover, we characterized a de novo translocation t(X;9)(q13.2;p24) in a female patient with full blown AHDS clinical features including elevated serum T3 levels. The MCT8 gene was disrupted at the X-breakpoint. A complete loss of MCT8 expression was observed in a fibroblast cell-line derived from this patient because of unfavorable nonrandom X-inactivation. Taken together, these data indicate that MCT8 mutations are not common in non-AHDS MR patients yet they support that elevated serum T3 levels can be indicative for AHDS and that AHDS clinical features can be present in female MCT8 mutation carriers whenever there is unfavorable nonrandom X-inactivation.
Affiliations:
- Allemagne, Australie, Belgique, France, Pays-Bas
- Auvergne-Rhône-Alpes, Berlin, Centre-Val de Loire, Gueldre, Rhône-Alpes, Région Centre, Île-de-France
- Berlin, Lyon, Nimègue, Paris, Tours
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 003372
- to stream PascalFrancis, to step Curation: 002C80
- to stream PascalFrancis, to step Checkpoint: 003092
- to stream Main, to step Merge: 009506
- to stream Main, to step Curation: 008C08
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression</title><author><name sortKey="Prints, Suzanna Gerarda Maria" sort="Prints, Suzanna Gerarda Maria" uniqKey="Prints S" first="Suzanna Gerarda Maria" last="Prints">Suzanna Gerarda Maria Prints</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute for Growth and Development, GROW, Maastricht University</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Bauters, Mareike" sort="Bauters, Mareike" uniqKey="Bauters M" first="Mareike" last="Bauters">Mareike Bauters</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Riff Jensen, Lars" sort="Riff Jensen, Lars" uniqKey="Riff Jensen L" first="Lars" last="Riff Jensen">Lars Riff Jensen</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Center for Human Genetics, Department of Human Genetics, University Hospital Gasthuisberg</s1><s2>Leuven</s2><s3>BEL</s3><sZ>5 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Service de Neuropédiatrie, Hospices Civils de Lyon</s1><s2>Lyon</s2><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Erik Macville, Merryn Victor" sort="Erik Macville, Merryn Victor" uniqKey="Erik Macville M" first="Merryn Victor" last="Erik Macville">Merryn Victor Erik Macville</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Van Roozendaal, Kees" sort="Van Roozendaal, Kees" uniqKey="Van Roozendaal K" first="Kees" last="Van Roozendaal">Kees Van Roozendaal</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Schrander Stumpel, Constance Theresia Rimbertha Maria" sort="Schrander Stumpel, Constance Theresia Rimbertha Maria" uniqKey="Schrander Stumpel C" first="Constance Theresia Rimbertha Maria" last="Schrander-Stumpel">Constance Theresia Rimbertha Maria Schrander-Stumpel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute for Growth and Development, GROW, Maastricht University</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Marynen, Peter" sort="Marynen, Peter" uniqKey="Marynen P" first="Peter" last="Marynen">Peter Marynen</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Center for Human Genetics, Department of Human Genetics, University Hospital Gasthuisberg</s1><s2>Leuven</s2><s3>BEL</s3><sZ>5 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>INSERM Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mentaux GPRM</s1><s2>Paris</s2><s3>FRA</s3><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Beldjord, Cherif" sort="Beldjord, Cherif" uniqKey="Beldjord C" first="Chérif" last="Beldjord">Chérif Beldjord</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>INSERM Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mentaux GPRM</s1><s2>Paris</s2><s3>FRA</s3><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>NSW GOLD Service, Hunter Genetics, University of Newcastle</s1><s2>Waratah, New South Wales</s2><s3>AUS</s3><sZ>18 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Waratah, New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Genetic Medicine, Women's and Children's Hospital and University of Adelaide</s1><s2>Callahan, South Australia</s2><s3>AUS</s3><sZ>19 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Callahan, South Australia</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Departments of Paediatrics and Molecular Biosciences, Women's and Children's Hospital and University of Adelaide</s1><s2>Callahan, South Australia</s2><s3>AUS</s3><sZ>19 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Callahan, South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Unité de Génétique, CHU Bretonneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Unité de Génétique, CHU Bretonneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans Hilger" last="Ropers">Hans Hilger Ropers</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Kuss, Andreas Walter" sort="Kuss, Andreas Walter" uniqKey="Kuss A" first="Andreas Walter" last="Kuss">Andreas Walter Kuss</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0393001</idno><date when="2008">2008</date><idno type="stanalyst">PASCAL 08-0393001 INIST</idno><idno type="RBID">Pascal:08-0393001</idno><idno type="wicri:Area/PascalFrancis/Corpus">003372</idno><idno type="wicri:Area/PascalFrancis/Curation">002C80</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">003092</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">003092</idno><idno type="wicri:doubleKey">1018-4813:2008:Prints S:mct:mutation:analysis</idno><idno type="wicri:Area/Main/Merge">009506</idno><idno type="wicri:Area/Main/Curation">008C08</idno><idno type="wicri:Area/Main/Exploration">008C08</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression</title><author><name sortKey="Prints, Suzanna Gerarda Maria" sort="Prints, Suzanna Gerarda Maria" uniqKey="Prints S" first="Suzanna Gerarda Maria" last="Prints">Suzanna Gerarda Maria Prints</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute for Growth and Development, GROW, Maastricht University</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Bauters, Mareike" sort="Bauters, Mareike" uniqKey="Bauters M" first="Mareike" last="Bauters">Mareike Bauters</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Riff Jensen, Lars" sort="Riff Jensen, Lars" uniqKey="Riff Jensen L" first="Lars" last="Riff Jensen">Lars Riff Jensen</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Center for Human Genetics, Department of Human Genetics, University Hospital Gasthuisberg</s1><s2>Leuven</s2><s3>BEL</s3><sZ>5 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Service de Neuropédiatrie, Hospices Civils de Lyon</s1><s2>Lyon</s2><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Erik Macville, Merryn Victor" sort="Erik Macville, Merryn Victor" uniqKey="Erik Macville M" first="Merryn Victor" last="Erik Macville">Merryn Victor Erik Macville</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Van Roozendaal, Kees" sort="Van Roozendaal, Kees" uniqKey="Van Roozendaal K" first="Kees" last="Van Roozendaal">Kees Van Roozendaal</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Schrander Stumpel, Constance Theresia Rimbertha Maria" sort="Schrander Stumpel, Constance Theresia Rimbertha Maria" uniqKey="Schrander Stumpel C" first="Constance Theresia Rimbertha Maria" last="Schrander-Stumpel">Constance Theresia Rimbertha Maria Schrander-Stumpel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Genetics, University Hospital azM Maastricht</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute for Growth and Development, GROW, Maastricht University</s1><s2>Maastricht</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Marynen, Peter" sort="Marynen, Peter" uniqKey="Marynen P" first="Peter" last="Marynen">Peter Marynen</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Center for Human Genetics, Department of Human Genetics, University Hospital Gasthuisberg</s1><s2>Leuven</s2><s3>BEL</s3><sZ>5 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>INSERM Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mentaux GPRM</s1><s2>Paris</s2><s3>FRA</s3><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Beldjord, Cherif" sort="Beldjord, Cherif" uniqKey="Beldjord C" first="Chérif" last="Beldjord">Chérif Beldjord</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>INSERM Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mentaux GPRM</s1><s2>Paris</s2><s3>FRA</s3><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>NSW GOLD Service, Hunter Genetics, University of Newcastle</s1><s2>Waratah, New South Wales</s2><s3>AUS</s3><sZ>18 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Waratah, New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Genetic Medicine, Women's and Children's Hospital and University of Adelaide</s1><s2>Callahan, South Australia</s2><s3>AUS</s3><sZ>19 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Callahan, South Australia</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Departments of Paediatrics and Molecular Biosciences, Women's and Children's Hospital and University of Adelaide</s1><s2>Callahan, South Australia</s2><s3>AUS</s3><sZ>19 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Callahan, South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Unité de Génétique, CHU Bretonneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Unité de Génétique, CHU Bretonneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans Hilger" last="Ropers">Hans Hilger Ropers</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Kuss, Andreas Walter" sort="Kuss, Andreas Walter" uniqKey="Kuss A" first="Andreas Walter" last="Kuss">Andreas Walter Kuss</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>11 aut.</sZ><sZ>22 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">European journal of human genetics</title><title level="j" type="abbreviated">Eur. j. hum. genet.</title><idno type="ISSN">1018-4813</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">European journal of human genetics</title><title level="j" type="abbreviated">Eur. j. hum. genet.</title><idno type="ISSN">1018-4813</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Complex syndrome</term><term>Female</term><term>Gene expression</term><term>Genetics</term><term>Identification</term><term>Inactivation</term><term>Loss</term><term>Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Syndrome complexe</term><term>Mutation</term><term>Identification</term><term>Femelle</term><term>Perte</term><term>Expression génique</term><term>Inactivation</term><term>Génétique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS). We performed MCT8 mutation analysis including 13 XLMR families with LOD scores >2.0, 401 male MR sibships and 47 sporadic male patients with AHDS-like clinical features. One nonsense mutation (c.629insA) and two missense changes (c.1A>T and c.1673G>A) were identified. Consistent with previous reports on MCT8 missense changes, the patient with c.1673G>A showed elevated serum T3 level. The c.1A>T change in another patient affects a putative translation start codon, but the same change was present in his healthy brother. In addition normal serum T3 levels were present, suggesting that the c.1A>T (NM_006517) variation is not responsible for the MR phenotype but indicates that MCT8 translation likely starts with a methionine at position p.75. Moreover, we characterized a de novo translocation t(X;9)(q13.2;p24) in a female patient with full blown AHDS clinical features including elevated serum T3 levels. The MCT8 gene was disrupted at the X-breakpoint. A complete loss of MCT8 expression was observed in a fibroblast cell-line derived from this patient because of unfavorable nonrandom X-inactivation. Taken together, these data indicate that MCT8 mutations are not common in non-AHDS MR patients yet they support that elevated serum T3 levels can be indicative for AHDS and that AHDS clinical features can be present in female MCT8 mutation carriers whenever there is unfavorable nonrandom X-inactivation.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Pays-Bas</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Berlin</li><li>Centre-Val de Loire</li><li>Gueldre</li><li>Rhône-Alpes</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Berlin</li><li>Lyon</li><li>Nimègue</li><li>Paris</li><li>Tours</li></settlement></list><tree><country name="Pays-Bas"><noRegion><name sortKey="Prints, Suzanna Gerarda Maria" sort="Prints, Suzanna Gerarda Maria" uniqKey="Prints S" first="Suzanna Gerarda Maria" last="Prints">Suzanna Gerarda Maria Prints</name></noRegion><name sortKey="Erik Macville, Merryn Victor" sort="Erik Macville, Merryn Victor" uniqKey="Erik Macville M" first="Merryn Victor" last="Erik Macville">Merryn Victor Erik Macville</name><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name><name sortKey="Prints, Suzanna Gerarda Maria" sort="Prints, Suzanna Gerarda Maria" uniqKey="Prints S" first="Suzanna Gerarda Maria" last="Prints">Suzanna Gerarda Maria Prints</name><name sortKey="Schrander Stumpel, Constance Theresia Rimbertha Maria" sort="Schrander Stumpel, Constance Theresia Rimbertha Maria" uniqKey="Schrander Stumpel C" first="Constance Theresia Rimbertha Maria" last="Schrander-Stumpel">Constance Theresia Rimbertha Maria Schrander-Stumpel</name><name sortKey="Schrander Stumpel, Constance Theresia Rimbertha Maria" sort="Schrander Stumpel, Constance Theresia Rimbertha Maria" uniqKey="Schrander Stumpel C" first="Constance Theresia Rimbertha Maria" last="Schrander-Stumpel">Constance Theresia Rimbertha Maria Schrander-Stumpel</name><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><name sortKey="Van Roozendaal, Kees" sort="Van Roozendaal, Kees" uniqKey="Van Roozendaal K" first="Kees" last="Van Roozendaal">Kees Van Roozendaal</name></country><country name="Allemagne"><region name="Berlin"><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name></region><name sortKey="Kuss, Andreas Walter" sort="Kuss, Andreas Walter" uniqKey="Kuss A" first="Andreas Walter" last="Kuss">Andreas Walter Kuss</name><name sortKey="Riff Jensen, Lars" sort="Riff Jensen, Lars" uniqKey="Riff Jensen L" first="Lars" last="Riff Jensen">Lars Riff Jensen</name><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans Hilger" last="Ropers">Hans Hilger Ropers</name><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name></country><country name="Belgique"><noRegion><name sortKey="Bauters, Mareike" sort="Bauters, Mareike" uniqKey="Bauters M" first="Mareike" last="Bauters">Mareike Bauters</name></noRegion><name sortKey="Bauters, Mareike" sort="Bauters, Mareike" uniqKey="Bauters M" first="Mareike" last="Bauters">Mareike Bauters</name><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><name sortKey="Marynen, Peter" sort="Marynen, Peter" uniqKey="Marynen P" first="Peter" last="Marynen">Peter Marynen</name><name sortKey="Marynen, Peter" sort="Marynen, Peter" uniqKey="Marynen P" first="Peter" last="Marynen">Peter Marynen</name><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name></country><country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name></region><name sortKey="Beldjord, Cherif" sort="Beldjord, Cherif" uniqKey="Beldjord C" first="Chérif" last="Beldjord">Chérif Beldjord</name><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name></country><country name="Australie"><noRegion><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name></noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 008C08 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 008C08 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= Pascal:08-0393001
|texte= MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
}}
| This area was generated with Dilib version V0.6.33. |  |