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month download article/chapter human synovial sarcoma university medical centre hans-hilger ropers x-linked mental retardation s-adenosylmethionine-binding protein x-linked creatine transporter karen govaerts & peter marynen distal breakpoint van ravenswaaij-arts cm jean-pierre fryns hilde van esch learning disability/mental retardation service de génétique hans van bokhoven related subjects full article pdf 8 mb interstitial deletion unstable genomic region creatine-transporter gene fraxf full mutation syndromic mental retardation privacy choices/manage cookies ropers hh severe mental retardation idiopathic mental retardation intellectual disability dna conformations splice site mutation chromosome array-cgh diagnostic genome profiling european economic area genome cgh arrays human genetic disease van kessel ag ftsj1 gene coding methyltransferase gene ftsj1 polymorphic cag repeat check access instant access human genetics severe neurodevelopmental delay inverted tandem xq23-26 gross deletions coincide vissers le cryptic chromosomal imbalances multiple congenital anomalies fraxf cpg island progressive neurological symptoms long time cooperation

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         headline: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
         description:Using high resolution X chromosome array-CGH we identified an interstitial microdeletion at Xp11.23 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.
         datePublished:2007-02-28T00:00:00Z
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            Metabolic Diseases
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      headline: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
      description:Using high resolution X chromosome array-CGH we identified an interstitial microdeletion at Xp11.23 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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         Autistic Feature
         Distal Breakpoint
         Human Genetics
         Molecular Medicine
         Gene Function
         Metabolic Diseases
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               name:University Hospital Leuven, Center for Human Genetics, University of Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
      name:Peter Marynen
      affiliation:
            name: VIB
            address:
               name:Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
               type:PostalAddress
            type:Organization
            name:K.U.Leuven
            address:
               name:Human Genome Laboratory, Center for Human Genetics, K.U.Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
      name:Jozef Gecz
      affiliation:
            name:Women’s and Children’s Hospital
            address:
               name:Department of Genetic Medicine, Women’s and Children’s Hospital, Adelaide, Australia
               type:PostalAddress
            type:Organization
            name:University of Adelaide
            address:
               name:Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide, Australia
               type:PostalAddress
            type:Organization
      name:Gillian Turner
      affiliation:
            name:University of Newcastle
            address:
               name:The GOLD service Hunter Genetics, University of Newcastle, New South Wales, Australia
               type:PostalAddress
            type:Organization
PostalAddress:
      name:Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
      name:Human Genome Laboratory, Center for Human Genetics, K.U.Leuven, Leuven, Belgium
      name:Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
      name:Human Genome Laboratory, Center for Human Genetics, K.U.Leuven, Leuven, Belgium
      name:The GOLD service Hunter Genetics, University of Newcastle, New South Wales, Australia
      name:University Hospital Leuven, Center for Human Genetics, University of Leuven, Leuven, Belgium
      name:Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
      name:Human Genome Laboratory, Center for Human Genetics, K.U.Leuven, Leuven, Belgium
      name:Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
      name:Max Planck Institute for Molecular Genetics, Berlin, Germany
      name:Centre Hospitalier Universitaire de Tours, Service de Génétique, Tours, France
      name:Institut Cochin de Génétique Moleculaire, CNRS/INSERM, Paris, France
      name:University Hospital Leuven, Center for Human Genetics, University of Leuven, Leuven, Belgium
      name:Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
      name:Human Genome Laboratory, Center for Human Genetics, K.U.Leuven, Leuven, Belgium
      name:Department of Genetic Medicine, Women’s and Children’s Hospital, Adelaide, Australia
      name:Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide, Australia
      name:The GOLD service Hunter Genetics, University of Newcastle, New South Wales, Australia
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