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A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

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Zeitschriftentitel: Disease Models & Mechanisms
Personen und Körperschaften: Seco, Celia Zazo, Castells-Nobau, Anna, Joo, Seol-hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S. Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M., Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P., Khor, Chiea Chuen, Göpfert, Martin C., Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima
In: Disease Models & Mechanisms, 2016
Format: E-Article
Sprache: Englisch
veröffentlicht:
The Company of Biologists
Schlagwörter:
General Biochemistry, Genetics and Molecular Biology
Immunology and Microbiology (miscellaneous)
Medicine (miscellaneous)
Neuroscience (miscellaneous)
author_facet Seco, Celia Zazo
Castells-Nobau, Anna
Joo, Seol-hee
Schraders, Margit
Foo, Jia Nee
van der Voet, Monique
Velan, S. Sendhil
Nijhof, Bonnie
Oostrik, Jaap
de Vrieze, Erik
Katana, Radoslaw
Mansoor, Atika
Huynen, Martijn
Szklarczyk, Radek
Oti, Martin
Tranebjærg, Lisbeth
van Wijk, Erwin
Scheffer-de Gooyert, Jolanda M.
Siddique, Saadat
Baets, Jonathan
de Jonghe, Peter
Kazmi, Syed Ali Raza
Sadananthan, Suresh Anand
van de Warrenburg, Bart P.
Khor, Chiea Chuen
Göpfert, Martin C.
Qamar, Raheel
Schenck, Annette
Kremer, Hannie
Siddiqi, Saima
Seco, Celia Zazo
Castells-Nobau, Anna
Joo, Seol-hee
Schraders, Margit
Foo, Jia Nee
van der Voet, Monique
Velan, S. Sendhil
Nijhof, Bonnie
Oostrik, Jaap
de Vrieze, Erik
Katana, Radoslaw
Mansoor, Atika
Huynen, Martijn
Szklarczyk, Radek
Oti, Martin
Tranebjærg, Lisbeth
van Wijk, Erwin
Scheffer-de Gooyert, Jolanda M.
Siddique, Saadat
Baets, Jonathan
de Jonghe, Peter
Kazmi, Syed Ali Raza
Sadananthan, Suresh Anand
van de Warrenburg, Bart P.
Khor, Chiea Chuen
Göpfert, Martin C.
Qamar, Raheel
Schenck, Annette
Kremer, Hannie
Siddiqi, Saima
author Seco, Celia Zazo
Castells-Nobau, Anna
Joo, Seol-hee
Schraders, Margit
Foo, Jia Nee
van der Voet, Monique
Velan, S. Sendhil
Nijhof, Bonnie
Oostrik, Jaap
de Vrieze, Erik
Katana, Radoslaw
Mansoor, Atika
Huynen, Martijn
Szklarczyk, Radek
Oti, Martin
Tranebjærg, Lisbeth
van Wijk, Erwin
Scheffer-de Gooyert, Jolanda M.
Siddique, Saadat
Baets, Jonathan
de Jonghe, Peter
Kazmi, Syed Ali Raza
Sadananthan, Suresh Anand
van de Warrenburg, Bart P.
Khor, Chiea Chuen
Göpfert, Martin C.
Qamar, Raheel
Schenck, Annette
Kremer, Hannie
Siddiqi, Saima
spellingShingle Seco, Celia Zazo
Castells-Nobau, Anna
Joo, Seol-hee
Schraders, Margit
Foo, Jia Nee
van der Voet, Monique
Velan, S. Sendhil
Nijhof, Bonnie
Oostrik, Jaap
de Vrieze, Erik
Katana, Radoslaw
Mansoor, Atika
Huynen, Martijn
Szklarczyk, Radek
Oti, Martin
Tranebjærg, Lisbeth
van Wijk, Erwin
Scheffer-de Gooyert, Jolanda M.
Siddique, Saadat
Baets, Jonathan
de Jonghe, Peter
Kazmi, Syed Ali Raza
Sadananthan, Suresh Anand
van de Warrenburg, Bart P.
Khor, Chiea Chuen
Göpfert, Martin C.
Qamar, Raheel
Schenck, Annette
Kremer, Hannie
Siddiqi, Saima
Disease Models & Mechanisms
A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
General Biochemistry, Genetics and Molecular Biology
Immunology and Microbiology (miscellaneous)
Medicine (miscellaneous)
Neuroscience (miscellaneous)
author_sort seco, celia zazo
spelling Seco, Celia Zazo Castells-Nobau, Anna Joo, Seol-hee Schraders, Margit Foo, Jia Nee van der Voet, Monique Velan, S. Sendhil Nijhof, Bonnie Oostrik, Jaap de Vrieze, Erik Katana, Radoslaw Mansoor, Atika Huynen, Martijn Szklarczyk, Radek Oti, Martin Tranebjærg, Lisbeth van Wijk, Erwin Scheffer-de Gooyert, Jolanda M. Siddique, Saadat Baets, Jonathan de Jonghe, Peter Kazmi, Syed Ali Raza Sadananthan, Suresh Anand van de Warrenburg, Bart P. Khor, Chiea Chuen Göpfert, Martin C. Qamar, Raheel Schenck, Annette Kremer, Hannie Siddiqi, Saima 1754-8411 1754-8403 The Company of Biologists General Biochemistry, Genetics and Molecular Biology Immunology and Microbiology (miscellaneous) Medicine (miscellaneous) Neuroscience (miscellaneous) http://dx.doi.org/10.1242/dmm.026476 <jats:p>A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G&amp;gt;T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA-interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained in the potential impact of genetic variation in FITM2.</jats:p> A homozygous<i>FITM2</i>mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy Disease Models & Mechanisms
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title A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_unstemmed A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_full A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_fullStr A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_full_unstemmed A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_short A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_sort a homozygous<i>fitm2</i>mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
topic General Biochemistry, Genetics and Molecular Biology
Immunology and Microbiology (miscellaneous)
Medicine (miscellaneous)
Neuroscience (miscellaneous)
url http://dx.doi.org/10.1242/dmm.026476
publishDate 2016
physical
description <jats:p>A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G&amp;gt;T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA-interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained in the potential impact of genetic variation in FITM2.</jats:p>
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author Seco, Celia Zazo, Castells-Nobau, Anna, Joo, Seol-hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S. Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M., Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P., Khor, Chiea Chuen, Göpfert, Martin C., Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima
author_facet Seco, Celia Zazo, Castells-Nobau, Anna, Joo, Seol-hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S. Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M., Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P., Khor, Chiea Chuen, Göpfert, Martin C., Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima, Seco, Celia Zazo, Castells-Nobau, Anna, Joo, Seol-hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S. Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M., Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P., Khor, Chiea Chuen, Göpfert, Martin C., Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima
author_sort seco, celia zazo
container_start_page 0
container_title Disease Models & Mechanisms
description <jats:p>A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G&amp;gt;T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA-interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained in the potential impact of genetic variation in FITM2.</jats:p>
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spelling Seco, Celia Zazo Castells-Nobau, Anna Joo, Seol-hee Schraders, Margit Foo, Jia Nee van der Voet, Monique Velan, S. Sendhil Nijhof, Bonnie Oostrik, Jaap de Vrieze, Erik Katana, Radoslaw Mansoor, Atika Huynen, Martijn Szklarczyk, Radek Oti, Martin Tranebjærg, Lisbeth van Wijk, Erwin Scheffer-de Gooyert, Jolanda M. Siddique, Saadat Baets, Jonathan de Jonghe, Peter Kazmi, Syed Ali Raza Sadananthan, Suresh Anand van de Warrenburg, Bart P. Khor, Chiea Chuen Göpfert, Martin C. Qamar, Raheel Schenck, Annette Kremer, Hannie Siddiqi, Saima 1754-8411 1754-8403 The Company of Biologists General Biochemistry, Genetics and Molecular Biology Immunology and Microbiology (miscellaneous) Medicine (miscellaneous) Neuroscience (miscellaneous) http://dx.doi.org/10.1242/dmm.026476 <jats:p>A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G&amp;gt;T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA-interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained in the potential impact of genetic variation in FITM2.</jats:p> A homozygous<i>FITM2</i>mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy Disease Models & Mechanisms
spellingShingle Seco, Celia Zazo, Castells-Nobau, Anna, Joo, Seol-hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S. Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M., Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P., Khor, Chiea Chuen, Göpfert, Martin C., Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima, Disease Models & Mechanisms, A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy, General Biochemistry, Genetics and Molecular Biology, Immunology and Microbiology (miscellaneous), Medicine (miscellaneous), Neuroscience (miscellaneous)
title A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_full A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_fullStr A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_full_unstemmed A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_short A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_sort a homozygous<i>fitm2</i>mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_unstemmed A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
topic General Biochemistry, Genetics and Molecular Biology, Immunology and Microbiology (miscellaneous), Medicine (miscellaneous), Neuroscience (miscellaneous)
url http://dx.doi.org/10.1242/dmm.026476