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

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

doi:10.1038/ng1264

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

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

Stem Cell Center

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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 language	English
Pages (from-to)	313-315
Journal	Nature Genetics
Volume	35
Issue number	4
DOIs	https://doi.org/10.1038/ng1264
Publication status	Published - 2003

Subject classification (UKÄ)

Cell and Molecular Biology

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10.1038/ng1264

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Kalscheuer, V. M., Freude, K., Musante, L., Jensen, L. R., Yntema, H. G., Gecz, J., Sefiani, A., Hoffmann, K., Moser, B., Haas, S., Gurok, U., Haesler, S., Aranda, B., Nshedjan, A., Tzschach, A., Hartmann, N., Roloff, T.-C., Shoichet, S., Hagens, O., ... 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

@article{2e4acd893e5b4296a65157d1209756a1,

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 Luciana Musante and Jensen, {Lars R} and Yntema, {Helger G} and Jozef Gecz and Abdelaziz Sefiani and Kirsten Hoffmann and Bettina Moser and Stefan Haas and Ulf Gurok and Sebastian Haesler and Beatriz Aranda and Arpik Nshedjan and Andreas Tzschach and Nils Hartmann and Tim-Christoph Roloff and Sarah Shoichet and Oliver 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 CJ} and Susann Schweigger and Hans-Hilger Ropers",

year = "2003",

doi = "10.1038/ng1264",

language = "English",

volume = "35",

pages = "313--315",

journal = "Nature Genetics",

issn = "1546-1718",

publisher = "Nature Publishing Group",

number = "4",

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Kalscheuer, VM, Freude, K, Musante, L, Jensen, LR, Yntema, HG, Gecz, J, Sefiani, A, Hoffmann, K, Moser, B, Haas, S, Gurok, U, Haesler, S, Aranda, B, Nshedjan, A, 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, Schweigger, 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

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, Luciana

AU - Jensen, Lars R

AU - Yntema, Helger G

AU - Gecz, Jozef

AU - Sefiani, Abdelaziz

AU - Hoffmann, Kirsten

AU - Moser, Bettina

AU - Haas, Stefan

AU - Gurok, Ulf

AU - Haesler, Sebastian

AU - Aranda, Beatriz

AU - Nshedjan, Arpik

AU - Tzschach, Andreas

AU - Hartmann, Nils

AU - Roloff, Tim-Christoph

AU - Shoichet, Sarah

AU - Hagens, Oliver

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 CJ

AU - Schweigger, Susann

AU - Ropers, Hans-Hilger

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

C2 - 14634649

SN - 1546-1718

VL - 35

SP - 313

EP - 315

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

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

Abstract

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