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 Gécz, 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, 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

107 Citations (Scopus)

Abstract

We found mutations in the gene PQBPI 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.

LanguageEnglish
Pages313-315
Number of pages3
JournalNature Genetics
Volume35
Issue number4
DOIs
Publication statusPublished - 1 Dec 2003
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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, Luciana ; Jensen, Lars R. ; Yntema, Helger G. ; Gécz, 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. / Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. In: Nature Genetics. 2003 ; Vol. 35, No. 4. pp. 313-315.
@article{bf6d44c87a9a456892f5880a8295a1a6,
title = "Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation",
abstract = "We found mutations in the gene PQBPI 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 G{\'e}cz 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 Roloff, {Tim Christoph} and Sarah Shoichet and Olivier Hagens and Jiong Tao and {Van Bokhoven}, Hans and Gillian Turner and Jamel Chelly and Claude Moraine and Fryns, {Jean Pierre} and Ulrike Nuber and Maria Hoeltzenbein and Constance Scharff and Harry Scherthan and Steffen Lenzner and Hamel, {Ben C.J.} and Susann Schweiger and Ropers, {Hans Hilger}",
year = "2003",
month = "12",
day = "1",
doi = "10.1038/ng1264",
language = "English",
volume = "35",
pages = "313--315",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",

}

Kalscheuer, VM, Freude, K, Musante, L, Jensen, LR, Yntema, HG, Gécz, J, Sefiani, A, Hoffmann, K, Moser, B, Haas, S, Gurok, U, Haesler, S, Aranda, B, Nshedjan, A, Tzschach, A, Hartmann, N, Roloff, TC, Shoichet, S, Hagens, O, Tao, J, Van Bokhoven, H, Turner, G, Chelly, J, Moraine, C, Fryns, JP, Nuber, U, Hoeltzenbein, M, Scharff, C, Scherthan, H, Lenzner, S, Hamel, BCJ, Schweiger, S & Ropers, HH 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, Luciana; Jensen, Lars R.; Yntema, Helger G.; Gécz, 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.

In: Nature Genetics, Vol. 35, No. 4, 01.12.2003, 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, Luciana

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 - Aranda, Beatriz

AU - Nshedjan, Arpik

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

PY - 2003/12/1

Y1 - 2003/12/1

N2 - We found mutations in the gene PQBPI 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 PQBPI 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.

UR - http://www.scopus.com/inward/record.url?scp=0345257776&partnerID=8YFLogxK

U2 - 10.1038/ng1264

DO - 10.1038/ng1264

M3 - Article

VL - 35

SP - 313

EP - 315

JO - Nature Genetics

T2 - 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 Dec 1;35(4):313-315. https://doi.org/10.1038/ng1264