Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
Identifieur interne : 009489 ( Main/Exploration ); précédent : 009488; suivant : 009490Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
Auteurs : Guy Froyen [Belgique] ; Marijke Bauters [Belgique] ; Jackie Boyle [Australie] ; Hilde Van Esch [Belgique] ; Karen Govaerts [Belgique] ; Hans Van Bokhoven [Pays-Bas] ; Hans-Hilger Ropers [Allemagne] ; Claude Moraine [France] ; Jamel Chelly [France] ; Jean-Pierre Fryns [Belgique] ; Peter Marynen [Belgique] ; Jozef Gecz [Australie] ; Gillian Turner [Australie]Source :
- Human genetics [ 0340-6717 ] ; 2007.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
Abstract
Using high resolution X chromosome array-CGH we identified an interstitial microdeletion at Xpll.23 in three brothers with moderate to severe mental retardation (MR) without dysmorphic features. The extent of the deletion was subsequently delineated to about 50 kb by regular PCR and included only the SLC38A5 and FTSJ1 genes. The loss of the FTSJ1 MR gene in males is expected to result in the observed phenotype but the contribution of the deletion of the solute carrier SLC38A5 gene is less clear. Their mother also carries the deletion and completely inactivates the aberrant X chromosome. Interestingly, the distal breakpoint is situated within a 200 kb SSX repeat region that appears to stimulate recombination since subtle copy number changes often occur at this location and it is frequently involved in translocations in tumours. Since this apparent SSX unstable structure is flanked proximally by FTSJ1 and PQBP1, subtle deletions or duplications at this location would be expected to cause MR, as in our family. So far, we have screened a cohort of 300 patients but did not find additional aberrations at the FTSJ1 locus indicating that the frequency is likely to be low.
Affiliations:
- Allemagne, Australie, Belgique, France, Pays-Bas
- Berlin, Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
- Berlin, Nimègue, Paris, Tours
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type="province" nuts="2">Gueldre</region></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="05"><s1>Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>7 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="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Centre Hospitalier Universitaire de Tours, Service de Génétique</s1><s2>Tours</s2><s3>FRA</s3><sZ>8 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="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 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="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="03"><s1>University Hospital Leuven, Center for Human Genetics, University of Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></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="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1><s2>Leuven</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Human Genome Laboratory, Center for Human Genetics, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>11 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</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="09"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>12 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Departments of Paediatrics and Molecular Biosciences, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>12 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></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="02"><s1>The GOLD service Hunter Genetics, University of Newcastle</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0285468</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0285468 INIST</idno><idno type="RBID">Pascal:07-0285468</idno><idno type="wicri:Area/PascalFrancis/Corpus">003B88</idno><idno type="wicri:Area/PascalFrancis/Curation">002500</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">003789</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">003789</idno><idno type="wicri:doubleKey">0340-6717:2007:Froyen G:loss:of:slc</idno><idno type="wicri:Area/Main/Merge">009F01</idno><idno type="wicri:Area/Main/Curation">009489</idno><idno type="wicri:Area/Main/Exploration">009489</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region</title><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="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1><s2>Leuven</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Bauters, Marijke" sort="Bauters, Marijke" uniqKey="Bauters M" first="Marijke" last="Bauters">Marijke Bauters</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1><s2>Leuven</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The GOLD service Hunter Genetics, University of Newcastle</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></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="03"><s1>University Hospital Leuven, Center for Human Genetics, University of Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Govaerts, Karen" sort="Govaerts, Karen" uniqKey="Govaerts K" first="Karen" last="Govaerts">Karen Govaerts</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1><s2>Leuven</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></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="04"><s1>Department of Human Genetics, University Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>6 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="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="05"><s1>Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>7 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="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Centre Hospitalier Universitaire de Tours, Service de Génétique</s1><s2>Tours</s2><s3>FRA</s3><sZ>8 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="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 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="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="03"><s1>University Hospital Leuven, Center for Human Genetics, University of Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></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="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1><s2>Leuven</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Human Genome Laboratory, Center for Human Genetics, K.U.Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>11 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</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="09"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>12 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Departments of Paediatrics and Molecular Biosciences, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>12 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></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="02"><s1>The GOLD service Hunter Genetics, University of Newcastle</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Human genetics</title><title level="j" type="abbreviated">Hum. genet.</title><idno type="ISSN">0340-6717</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Human genetics</title><title level="j" type="abbreviated">Hum. genet.</title><idno type="ISSN">0340-6717</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetics</term><term>Genomics</term><term>Mental retardation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Génomique</term><term>Génétique</term><term>Arriération mentale</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Using high resolution X chromosome array-CGH we identified an interstitial microdeletion at Xpll.23 in three brothers with moderate to severe mental retardation (MR) without dysmorphic features. The extent of the deletion was subsequently delineated to about 50 kb by regular PCR and included only the SLC38A5 and FTSJ1 genes. The loss of the FTSJ1 MR gene in males is expected to result in the observed phenotype but the contribution of the deletion of the solute carrier SLC38A5 gene is less clear. Their mother also carries the deletion and completely inactivates the aberrant X chromosome. Interestingly, the distal breakpoint is situated within a 200 kb SSX repeat region that appears to stimulate recombination since subtle copy number changes often occur at this location and it is frequently involved in translocations in tumours. Since this apparent SSX unstable structure is flanked proximally by FTSJ1 and PQBP1, subtle deletions or duplications at this location would be expected to cause MR, as in our family. So far, we have screened a cohort of 300 patients but did not find additional aberrations at the FTSJ1 locus indicating that the frequency is likely to be low.</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>Berlin</li><li>Centre-Val de Loire</li><li>Gueldre</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Berlin</li><li>Nimègue</li><li>Paris</li><li>Tours</li></settlement></list><tree><country name="Belgique"><noRegion><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name></noRegion><name sortKey="Bauters, Marijke" sort="Bauters, Marijke" uniqKey="Bauters M" first="Marijke" last="Bauters">Marijke Bauters</name><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><name sortKey="Govaerts, Karen" sort="Govaerts, Karen" uniqKey="Govaerts K" first="Karen" last="Govaerts">Karen Govaerts</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="Australie"><noRegion><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</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><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name></region></country><country name="Allemagne"><region name="Berlin"><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name></region></country><country name="France"><region name="Centre-Val de Loire"><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name></region><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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