AustralieFrV1, PascalFrancis, Curation, bibRecord, 002500

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 : 002500 ( PascalFrancis/Curation ); précédent : 002499; suivant : 002501

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

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.

RBID : Pascal:07-0285468

Descripteurs français

Pascal (Inist)
- Génomique, Génétique, Arriération mentale.
Wicri :
- topic : Génétique.

English descriptors

KwdEn :
- Genetics, Genomics, Mental retardation.

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.

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C01	`01`		`ENG`	@0 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.
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Le document en format XML

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<author><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name>
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<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
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<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
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<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
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<author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
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<author><name sortKey="Marynen, Peter" sort="Marynen, Peter" uniqKey="Marynen P" first="Peter" last="Marynen">Peter Marynen</name>
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<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
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<sZ>12 aut.</sZ>
</inist:fA14>
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</affiliation>
</author>
<author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
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<s2>New South Wales</s2>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
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<country>Australie</country>
</affiliation>
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<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>
</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>
</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>
</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>
</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>
</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="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
<affiliation wicri:level="1"><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>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</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>
</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>
</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>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Human genetics</title>
<title level="j" type="abbreviated">Hum. genet.</title>
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<seriesStmt><title level="j" type="main">Human genetics</title>
<title level="j" type="abbreviated">Hum. genet.</title>
<idno type="ISSN">0340-6717</idno>
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<term>Genomics</term>
<term>Mental retardation</term>
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<term>Génétique</term>
<term>Arriération mentale</term>
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<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>
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<fA08 i1="01" i2="1" l="ENG"><s1>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</s1>
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<fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
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<sZ>13 aut.</sZ>
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<fA14 i1="03"><s1>University Hospital Leuven, Center for Human Genetics, University of Leuven</s1>
<s2>Leuven</s2>
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<sZ>10 aut.</sZ>
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<fA14 i1="04"><s1>Department of Human Genetics, University Medical Centre</s1>
<s2>Nijmegen</s2>
<s3>NLD</s3>
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<fA14 i1="05"><s1>Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
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<fA14 i1="06"><s1>Centre Hospitalier Universitaire de Tours, Service de Génétique</s1>
<s2>Tours</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
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<fA14 i1="07"><s1>Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin</s1>
<s2>Paris</s2>
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<sZ>11 aut.</sZ>
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<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>
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<fA14 i1="10"><s1>Departments of Paediatrics and Molecular Biosciences, University of Adelaide</s1>
<s2>Adelaide</s2>
<s3>AUS</s3>
<sZ>12 aut.</sZ>
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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

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

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