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

Kalscheuer, Vera M.; Freude, Kristine; Musante, Luciana; Jensen, Lars R.; Yntema, Helger G.; Gecz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; 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

doi:10.1038/ng1264

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学術論文

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

MPS-Authors

/persons/resource/persons50369

Kalscheuer, Vera M.
Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Freude, Kristine
Max Planck Society;

/persons/resource/persons50439

Musante, Luciana
Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

/persons/resource/persons50364

Jensen, Lars R.
Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society;

Hoffmann, Kirsten
Max Planck Society;

Moser, Bettina
Max Planck Society;

/persons/resource/persons50183

Haas, Stefan
Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society;

Gurok, Ulf
Max Planck Society;

/persons/resource/persons50186

Haesler, Sebastian
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

/persons/resource/persons50072

Aranda, Beatriz
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Nshedjan, Arpik
Max Planck Society;

/persons/resource/persons50604

Tzschach, Andreas
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Hartmann, Nils
Max Planck Society;

Roloff, Tim-Christoph
Max Planck Society;

Shoichet, Sarah
Max Planck Society;

/persons/resource/persons50187

Hagens, Olivier
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Tao, Jiong
Max Planck Society;

/persons/resource/persons50450

Nuber, Ulrike
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Hoeltzenbein, Maria
Max Planck Society;

/persons/resource/persons50514

Scharff, Constance
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

/persons/resource/persons50515

Scherthan, Harry
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Lenzner, Steffen
Max Planck Society;

/persons/resource/persons50544

Schweiger, Susann
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

/persons/resource/persons50501

Ropers, Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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引用

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., 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, B. C. J., Schweiger, S., & Ropers, H.-H. (2003). Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics, 35(4), 313-315. doi:10.1038/ng1264.

引用: https://hdl.handle.net/11858/00-001M-0000-0010-8953-D

要旨

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.