Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Vera M. Kalscheuer, Kristine Freude, Luiciana Musante, Lars R. Jensen, Helger G. Yntema, Jozef Gécz, Abdelaziz Sefiani, Kirsten Hoffmann, Bettina Moser, Stefan Haas, Ulf Gurok, Sebastian Haesler, Aranda Beatriz, Nshedjan Arpik, Andreas Tzschach, Nils Hartmann, Tim-Christoph Roloff, Sarah Shoichet, Olivier Hagens, Jiong Tao & 13 others Hans van Bokhoven, Gillian Turner, Jamel Chelly, Claude Moraine, Jean-Pierre Fryns, Ulrike Nuber, Maria Hoeltzenbein, Constance Scharff, Harry Scherthan, Steffen Lenzner, Ben C. J. Hamel, Susann Schweiger, Hans-Hilger Ropers

    Research output: Contribution to journalArticle

    106 Citations (Scopus)

    Abstract

    We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder
    Original languageEnglish
    Pages (from-to)313-315
    Number of pages3
    JournalNature Genetics
    Volume35
    Issue number4
    DOIs
    Publication statusPublished - 2003

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    X-Linked Mental Retardation
    Microcephaly
    Mutation
    Paraplegia
    Intellectual Disability
    Genes
    polyglutamine-binding protein 1

    Cite this

    Kalscheuer, V. M., Freude, K., Musante, L., Jensen, L. R., Yntema, H. G., Gécz, J., ... Ropers, H-H. (2003). Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics, 35(4), 313-315. https://doi.org/10.1038/ng1264
    Kalscheuer, Vera M. ; Freude, Kristine ; Musante, Luiciana ; Jensen, Lars R. ; Yntema, Helger G. ; Gécz, Jozef ; Sefiani, Abdelaziz ; Hoffmann, Kirsten ; Moser, Bettina ; Haas, Stefan ; Gurok, Ulf ; Haesler, Sebastian ; Beatriz, Aranda ; Arpik, Nshedjan ; Tzschach, Andreas ; Hartmann, Nils ; Roloff, Tim-Christoph ; Shoichet, Sarah ; Hagens, Olivier ; Tao, Jiong ; van Bokhoven, Hans ; Turner, Gillian ; Chelly, Jamel ; Moraine, Claude ; Fryns, Jean-Pierre ; Nuber, Ulrike ; Hoeltzenbein, Maria ; Scharff, Constance ; Scherthan, Harry ; Lenzner, Steffen ; Hamel, Ben C. J. ; Schweiger, Susann ; Ropers, Hans-Hilger. / Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. In: Nature Genetics. 2003 ; Vol. 35, No. 4. pp. 313-315.
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    title = "Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation",
    abstract = "We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder",
    author = "Kalscheuer, {Vera M.} and Kristine Freude and Luiciana Musante and Jensen, {Lars R.} and Yntema, {Helger G.} and Jozef G{\'e}cz and Abdelaziz Sefiani and Kirsten Hoffmann and Bettina Moser and Stefan Haas and Ulf Gurok and Sebastian Haesler and Aranda Beatriz and Nshedjan Arpik and Andreas Tzschach and Nils Hartmann and Tim-Christoph Roloff and Sarah Shoichet and Olivier Hagens and Jiong Tao and {van Bokhoven}, Hans and Gillian Turner and Jamel Chelly and Claude Moraine and Jean-Pierre Fryns and Ulrike Nuber and Maria Hoeltzenbein and Constance Scharff and Harry Scherthan and Steffen Lenzner and Hamel, {Ben C. J.} and Susann Schweiger and Hans-Hilger Ropers",
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    Kalscheuer, VM, Freude, K, Musante, L, Jensen, LR, Yntema, HG, Gécz, J, Sefiani, A, Hoffmann, K, Moser, B, Haas, S, Gurok, U, Haesler, S, Beatriz, A, Arpik, N, Tzschach, A, Hartmann, N, Roloff, T-C, Shoichet, S, Hagens, O, Tao, J, van Bokhoven, H, Turner, G, Chelly, J, Moraine, C, Fryns, J-P, Nuber, U, Hoeltzenbein, M, Scharff, C, Scherthan, H, Lenzner, S, Hamel, BCJ, Schweiger, S & Ropers, H-H 2003, 'Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation', Nature Genetics, vol. 35, no. 4, pp. 313-315. https://doi.org/10.1038/ng1264

    Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. / Kalscheuer, Vera M.; Freude, Kristine; Musante, Luiciana; Jensen, Lars R.; Yntema, Helger G.; Gécz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Beatriz, Aranda; Arpik, Nshedjan; Tzschach, Andreas; Hartmann, Nils; Roloff, Tim-Christoph; Shoichet, Sarah; Hagens, Olivier; Tao, Jiong; van Bokhoven, Hans; Turner, Gillian; Chelly, Jamel; Moraine, Claude; Fryns, Jean-Pierre; Nuber, Ulrike; Hoeltzenbein, Maria; Scharff, Constance; Scherthan, Harry; Lenzner, Steffen; Hamel, Ben C. J.; Schweiger, Susann; Ropers, Hans-Hilger.

    In: Nature Genetics, Vol. 35, No. 4, 2003, p. 313-315.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

    AU - Kalscheuer, Vera M.

    AU - Freude, Kristine

    AU - Musante, Luiciana

    AU - Jensen, Lars R.

    AU - Yntema, Helger G.

    AU - Gécz, Jozef

    AU - Sefiani, Abdelaziz

    AU - Hoffmann, Kirsten

    AU - Moser, Bettina

    AU - Haas, Stefan

    AU - Gurok, Ulf

    AU - Haesler, Sebastian

    AU - Beatriz, Aranda

    AU - Arpik, Nshedjan

    AU - Tzschach, Andreas

    AU - Hartmann, Nils

    AU - Roloff, Tim-Christoph

    AU - Shoichet, Sarah

    AU - Hagens, Olivier

    AU - Tao, Jiong

    AU - van Bokhoven, Hans

    AU - Turner, Gillian

    AU - Chelly, Jamel

    AU - Moraine, Claude

    AU - Fryns, Jean-Pierre

    AU - Nuber, Ulrike

    AU - Hoeltzenbein, Maria

    AU - Scharff, Constance

    AU - Scherthan, Harry

    AU - Lenzner, Steffen

    AU - Hamel, Ben C. J.

    AU - Schweiger, Susann

    AU - Ropers, Hans-Hilger

    N1 - dc.publisher: Nature.com

    PY - 2003

    Y1 - 2003

    N2 - We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder

    AB - We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder

    U2 - 10.1038/ng1264

    DO - 10.1038/ng1264

    M3 - Article

    VL - 35

    SP - 313

    EP - 315

    JO - Nature Genetics

    JF - Nature Genetics

    SN - 1061-4036

    IS - 4

    ER -

    Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J et al. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics. 2003;35(4):313-315. https://doi.org/10.1038/ng1264