Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Research output: Contribution to journal › Journal article › Research › peer-review

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Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. / Freude, Kristine; Hoffmann, Kirsten; Jensen, Lars-Riff; Delatycki, Martin B; des Portes, Vincent; Moser, Bettina; Hamel, Ben; van Bokhoven, Hans; Moraine, Claude; Fryns, Jean-Pierre; Chelly, Jamel; Gécz, Jozef; Lenzner, Steffen; Kalscheuer, Vera M; Ropers, Hans-Hilger; Freude, Karla Kristine.

In: American Journal of Human Genetics, Vol. 75, No. 2, 08.2004, p. 305-9.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Freude, K, Hoffmann, K, Jensen, L-R, Delatycki, MB, des Portes, V, Moser, B, Hamel, B, van Bokhoven, H, Moraine, C, Fryns, J-P, Chelly, J, Gécz, J, Lenzner, S, Kalscheuer, VM, Ropers, H-H & Freude, KK 2004, 'Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation', American Journal of Human Genetics, vol. 75, no. 2, pp. 305-9. https://doi.org/10.1086/422507

APA

Freude, K., Hoffmann, K., Jensen, L-R., Delatycki, M. B., des Portes, V., Moser, B., Hamel, B., van Bokhoven, H., Moraine, C., Fryns, J-P., Chelly, J., Gécz, J., Lenzner, S., Kalscheuer, V. M., Ropers, H-H., & Freude, K. K. (2004). Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics, 75(2), 305-9. https://doi.org/10.1086/422507

Vancouver

Freude K, Hoffmann K, Jensen L-R, Delatycki MB, des Portes V, Moser B et al. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics. 2004 Aug;75(2):305-9. https://doi.org/10.1086/422507

Author

Freude, Kristine ; Hoffmann, Kirsten ; Jensen, Lars-Riff ; Delatycki, Martin B ; des Portes, Vincent ; Moser, Bettina ; Hamel, Ben ; van Bokhoven, Hans ; Moraine, Claude ; Fryns, Jean-Pierre ; Chelly, Jamel ; Gécz, Jozef ; Lenzner, Steffen ; Kalscheuer, Vera M ; Ropers, Hans-Hilger ; Freude, Karla Kristine. / Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. In: American Journal of Human Genetics. 2004 ; Vol. 75, No. 2. pp. 305-9.

Bibtex

@article{67877c3ee6f9467bb259ee2757c7ab1e,
title = "Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation",
abstract = "Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families--one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.",
keywords = "Adult, Blotting, Northern, Child, Preschool, Chromosomes, Human, X, Female, Humans, Infant, Male, Mental Retardation, X-Linked, Methyltransferases, Molecular Sequence Data, Nuclear Proteins, Pedigree, Sequence Analysis, DNA",
author = "Kristine Freude and Kirsten Hoffmann and Lars-Riff Jensen and Delatycki, {Martin B} and {des Portes}, Vincent and Bettina Moser and Ben Hamel and {van Bokhoven}, Hans and Claude Moraine and Jean-Pierre Fryns and Jamel Chelly and Jozef G{\'e}cz and Steffen Lenzner and Kalscheuer, {Vera M} and Hans-Hilger Ropers and Freude, {Karla Kristine}",
year = "2004",
month = aug,
doi = "10.1086/422507",
language = "English",
volume = "75",
pages = "305--9",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "2",

}

RIS

TY - JOUR

T1 - Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

AU - Freude, Kristine

AU - Hoffmann, Kirsten

AU - Jensen, Lars-Riff

AU - Delatycki, Martin B

AU - des Portes, Vincent

AU - Moser, Bettina

AU - Hamel, Ben

AU - van Bokhoven, Hans

AU - Moraine, Claude

AU - Fryns, Jean-Pierre

AU - Chelly, Jamel

AU - Gécz, Jozef

AU - Lenzner, Steffen

AU - Kalscheuer, Vera M

AU - Ropers, Hans-Hilger

AU - Freude, Karla Kristine

PY - 2004/8

Y1 - 2004/8

N2 - Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families--one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.

AB - Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families--one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.

KW - Adult

KW - Blotting, Northern

KW - Child, Preschool

KW - Chromosomes, Human, X

KW - Female

KW - Humans

KW - Infant

KW - Male

KW - Mental Retardation, X-Linked

KW - Methyltransferases

KW - Molecular Sequence Data

KW - Nuclear Proteins

KW - Pedigree

KW - Sequence Analysis, DNA

U2 - 10.1086/422507

DO - 10.1086/422507

M3 - Journal article

C2 - 15162322

VL - 75

SP - 305

EP - 309

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -

ID: 138433984