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Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

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Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. / Schossig, Anna; Wolf, Nicole I; Fischer, Christine; Fischer, Maria; Stocker, Gernot; Pabinger, Stephan; Dander, Andreas; Steiner, Bernhard; Tönz, Otmar; Kotzot, Dieter; Haberlandt, Edda; Amberger, Albert; Burwinkel, Barbara; Wimmer, Katharina; Fauth, Christine; Grond-Ginsbach, Caspar; Koch, Martin J; Deichmann, Annette; von Kalle, Christof; Bartram, Claus R; Kohlschütter, Alfried; Trajanoski, Zlatko; Zschocke, Johannes.

in: AM J HUM GENET, Jahrgang 90, Nr. 4, 06.04.2012, S. 701-7.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Schossig, A, Wolf, NI, Fischer, C, Fischer, M, Stocker, G, Pabinger, S, Dander, A, Steiner, B, Tönz, O, Kotzot, D, Haberlandt, E, Amberger, A, Burwinkel, B, Wimmer, K, Fauth, C, Grond-Ginsbach, C, Koch, MJ, Deichmann, A, von Kalle, C, Bartram, CR, Kohlschütter, A, Trajanoski, Z & Zschocke, J 2012, 'Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome', AM J HUM GENET, Jg. 90, Nr. 4, S. 701-7. https://doi.org/10.1016/j.ajhg.2012.02.012

APA

Schossig, A., Wolf, N. I., Fischer, C., Fischer, M., Stocker, G., Pabinger, S., Dander, A., Steiner, B., Tönz, O., Kotzot, D., Haberlandt, E., Amberger, A., Burwinkel, B., Wimmer, K., Fauth, C., Grond-Ginsbach, C., Koch, M. J., Deichmann, A., von Kalle, C., ... Zschocke, J. (2012). Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. AM J HUM GENET, 90(4), 701-7. https://doi.org/10.1016/j.ajhg.2012.02.012

Vancouver

Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S et al. Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. AM J HUM GENET. 2012 Apr 6;90(4):701-7. https://doi.org/10.1016/j.ajhg.2012.02.012

Bibtex

@article{6f435dc19b2444cd9adef2b36bd4f2ae,
title = "Mutations in ROGDI Cause Kohlsch{\"u}tter-T{\"o}nz Syndrome",
abstract = "Kohlsch{\"u}tter-T{\"o}nz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping and exome sequencing, we identified a homozygous frameshift deletion, c.229_230del (p.Leu77Alafs(∗)64), in ROGDI in two affected individuals from a consanguineous family. Molecular studies in two additional KTS-affected individuals from two unrelated Austrian and Swiss families revealed homozygosity for nonsense mutation c.286C>T (p.Gln96(∗)) and compound heterozygosity for the splice-site mutations c.531+5G>C and c.532-2A>T in ROGDI, respectively. The latter mutation was also found to be heterozygous in the mother of the Swiss affected individual in whom KTS was reported for the first time in 1974. ROGDI is highly expressed throughout the brain and other organs, but its function is largely unknown. Possible interactions with DISC1, a protein involved in diverse cytoskeletal functions, have been suggested. Our finding that ROGDI mutations cause KTS indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis.",
keywords = "Amelogenesis Imperfecta, Base Sequence, Chromosome Mapping, Dementia, Epilepsy, Exome, Exons, Female, Heterozygote, Homozygote, Humans, Infant, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Nuclear Proteins",
author = "Anna Schossig and Wolf, {Nicole I} and Christine Fischer and Maria Fischer and Gernot Stocker and Stephan Pabinger and Andreas Dander and Bernhard Steiner and Otmar T{\"o}nz and Dieter Kotzot and Edda Haberlandt and Albert Amberger and Barbara Burwinkel and Katharina Wimmer and Christine Fauth and Caspar Grond-Ginsbach and Koch, {Martin J} and Annette Deichmann and {von Kalle}, Christof and Bartram, {Claus R} and Alfried Kohlsch{\"u}tter and Zlatko Trajanoski and Johannes Zschocke",
note = "Copyright {\textcopyright} 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.",
year = "2012",
month = apr,
day = "6",
doi = "10.1016/j.ajhg.2012.02.012",
language = "English",
volume = "90",
pages = "701--7",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",

}

RIS

TY - JOUR

T1 - Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

AU - Schossig, Anna

AU - Wolf, Nicole I

AU - Fischer, Christine

AU - Fischer, Maria

AU - Stocker, Gernot

AU - Pabinger, Stephan

AU - Dander, Andreas

AU - Steiner, Bernhard

AU - Tönz, Otmar

AU - Kotzot, Dieter

AU - Haberlandt, Edda

AU - Amberger, Albert

AU - Burwinkel, Barbara

AU - Wimmer, Katharina

AU - Fauth, Christine

AU - Grond-Ginsbach, Caspar

AU - Koch, Martin J

AU - Deichmann, Annette

AU - von Kalle, Christof

AU - Bartram, Claus R

AU - Kohlschütter, Alfried

AU - Trajanoski, Zlatko

AU - Zschocke, Johannes

N1 - Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

PY - 2012/4/6

Y1 - 2012/4/6

N2 - Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping and exome sequencing, we identified a homozygous frameshift deletion, c.229_230del (p.Leu77Alafs(∗)64), in ROGDI in two affected individuals from a consanguineous family. Molecular studies in two additional KTS-affected individuals from two unrelated Austrian and Swiss families revealed homozygosity for nonsense mutation c.286C>T (p.Gln96(∗)) and compound heterozygosity for the splice-site mutations c.531+5G>C and c.532-2A>T in ROGDI, respectively. The latter mutation was also found to be heterozygous in the mother of the Swiss affected individual in whom KTS was reported for the first time in 1974. ROGDI is highly expressed throughout the brain and other organs, but its function is largely unknown. Possible interactions with DISC1, a protein involved in diverse cytoskeletal functions, have been suggested. Our finding that ROGDI mutations cause KTS indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis.

AB - Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping and exome sequencing, we identified a homozygous frameshift deletion, c.229_230del (p.Leu77Alafs(∗)64), in ROGDI in two affected individuals from a consanguineous family. Molecular studies in two additional KTS-affected individuals from two unrelated Austrian and Swiss families revealed homozygosity for nonsense mutation c.286C>T (p.Gln96(∗)) and compound heterozygosity for the splice-site mutations c.531+5G>C and c.532-2A>T in ROGDI, respectively. The latter mutation was also found to be heterozygous in the mother of the Swiss affected individual in whom KTS was reported for the first time in 1974. ROGDI is highly expressed throughout the brain and other organs, but its function is largely unknown. Possible interactions with DISC1, a protein involved in diverse cytoskeletal functions, have been suggested. Our finding that ROGDI mutations cause KTS indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis.

KW - Amelogenesis Imperfecta

KW - Base Sequence

KW - Chromosome Mapping

KW - Dementia

KW - Epilepsy

KW - Exome

KW - Exons

KW - Female

KW - Heterozygote

KW - Homozygote

KW - Humans

KW - Infant

KW - Male

KW - Membrane Proteins

KW - Molecular Sequence Data

KW - Mutation

KW - Nuclear Proteins

U2 - 10.1016/j.ajhg.2012.02.012

DO - 10.1016/j.ajhg.2012.02.012

M3 - SCORING: Journal article

C2 - 22424600

VL - 90

SP - 701

EP - 707

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

IS - 4

ER -