A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Celia Zazo Seco; Anna Castells-Nobau; Seol-hee Joo; Margit Schraders; Jia Nee Foo; Monique van der Voet; S. Sendhil Velan; Bonnie Nijhof; Jaap Oostrik; Erik de Vrieze; Radoslaw Katana; Atika Mansoor; Martijn Huynen; Radek Szklarczyk; Martin Oti; Lisbeth Tranebjaerg; Erwin van Wijk; Jolanda M. Scheffer-de Gooyert; Saadat Siddique; Jonathan Baets; Peter de Jonghe; Syed Ali Raza Kazmi; Suresh Anand Sadananthan; Bart P. van de Warrenburg; Chiea Chuen Khor; Martin C. Goepfert; Raheel Qamar; Annette Schenck; Hannie Kremer; Saima Siddiqi

doi:10.1242/dmm.026476

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjaerg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan BaetsPeter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Goepfert, Raheel Qamar^*, Annette Schenck, Hannie Kremer^*, Saima Siddiqi^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	105-118
Number of pages	14
Journal	Disease Models & Mechanisms
Volume	10
Issue number	2
DOIs	https://doi.org/10.1242/dmm.026476
Publication status	Published - 1 Feb 2017

Keywords

FITM2
Lipid droplets
Drosophila
Hearing impairment
Motor development
Dystonia
ENDOPLASMIC-RETICULUM STRESS
LIPID DROPLET
FAT STORAGE
TRANSMEMBRANE PROTEIN-2
GENE-EXPRESSION
DROSOPHILA
METABOLISM
MORPHOLOGY
DISEASE
CELLS

Access to Document

10.1242/dmm.026476

Cite this

Seco, C. Z., Castells-Nobau, A., Joo, S., Schraders, M., Foo, J. N., van der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., de Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjaerg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., ... Siddiqi, S. (2017). A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. Disease Models & Mechanisms, 10(2), 105-118. https://doi.org/10.1242/dmm.026476

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 ; Tranebjaerg, 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 ; Goepfert, Martin C. ; Qamar, Raheel ; Schenck, Annette ; Kremer, Hannie ; Siddiqi, Saima. / A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. In: Disease Models & Mechanisms. 2017 ; Vol. 10, No. 2. pp. 105-118.

@article{7f9a096a5de1430f981108809de04620,

title = "A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy",

keywords = "FITM2, Lipid droplets, Drosophila, Hearing impairment, Motor development, Dystonia, ENDOPLASMIC-RETICULUM STRESS, LIPID DROPLET, FAT STORAGE, TRANSMEMBRANE PROTEIN-2, GENE-EXPRESSION, DROSOPHILA, METABOLISM, MORPHOLOGY, DISEASE, CELLS",

author = "Seco, {Celia Zazo} and Anna Castells-Nobau and Seol-hee Joo and Margit Schraders and Foo, {Jia Nee} and {van der Voet}, Monique and Velan, {S. Sendhil} and Bonnie Nijhof and Jaap Oostrik and {de Vrieze}, Erik and Radoslaw Katana and Atika Mansoor and Martijn Huynen and Radek Szklarczyk and Martin Oti and Lisbeth Tranebjaerg and {van Wijk}, Erwin and {Scheffer-de Gooyert}, {Jolanda M.} and Saadat Siddique and Jonathan Baets and {de Jonghe}, Peter and Kazmi, {Syed Ali Raza} and Sadananthan, {Suresh Anand} and {van de Warrenburg}, {Bart P.} and Khor, {Chiea Chuen} and Goepfert, {Martin C.} and Raheel Qamar and Annette Schenck and Hannie Kremer and Saima Siddiqi",

year = "2017",

month = feb,

day = "1",

doi = "10.1242/dmm.026476",

language = "English",

volume = "10",

pages = "105--118",

journal = "Disease Models & Mechanisms",

issn = "1754-8403",

publisher = "Company of Biologists Ltd",

number = "2",

}

Seco, CZ, Castells-Nobau, A, Joo, S, Schraders, M, Foo, JN, van der Voet, M, Velan, SS, Nijhof, B, Oostrik, J, de Vrieze, E, Katana, R, Mansoor, A, Huynen, M, Szklarczyk, R, Oti, M, Tranebjaerg, L, van Wijk, E, Scheffer-de Gooyert, JM, Siddique, S, Baets, J, de Jonghe, P, Kazmi, SAR, Sadananthan, SA, van de Warrenburg, BP, Khor, CC, Goepfert, MC, Qamar, R, Schenck, A, Kremer, H & Siddiqi, S 2017, 'A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy', Disease Models & Mechanisms, vol. 10, no. 2, pp. 105-118. https://doi.org/10.1242/dmm.026476

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. / 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; Tranebjaerg, 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; Goepfert, Martin C.; Qamar, Raheel; Schenck, Annette; Kremer, Hannie; Siddiqi, Saima.

In: Disease Models & Mechanisms, Vol. 10, No. 2, 01.02.2017, p. 105-118.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

AU - Seco, Celia Zazo

AU - Castells-Nobau, Anna

AU - Joo, Seol-hee

AU - Schraders, Margit

AU - Foo, Jia Nee

AU - van der Voet, Monique

AU - Velan, S. Sendhil

AU - Nijhof, Bonnie

AU - Oostrik, Jaap

AU - de Vrieze, Erik

AU - Katana, Radoslaw

AU - Mansoor, Atika

AU - Huynen, Martijn

AU - Szklarczyk, Radek

AU - Oti, Martin

AU - Tranebjaerg, Lisbeth

AU - van Wijk, Erwin

AU - Scheffer-de Gooyert, Jolanda M.

AU - Siddique, Saadat

AU - Baets, Jonathan

AU - de Jonghe, Peter

AU - Kazmi, Syed Ali Raza

AU - Sadananthan, Suresh Anand

AU - van de Warrenburg, Bart P.

AU - Khor, Chiea Chuen

AU - Goepfert, Martin C.

AU - Qamar, Raheel

AU - Schenck, Annette

AU - Kremer, Hannie

AU - Siddiqi, Saima

PY - 2017/2/1

Y1 - 2017/2/1

KW - FITM2

KW - Lipid droplets

KW - Drosophila

KW - Hearing impairment

KW - Motor development

KW - Dystonia

KW - ENDOPLASMIC-RETICULUM STRESS

KW - LIPID DROPLET

KW - FAT STORAGE

KW - TRANSMEMBRANE PROTEIN-2

KW - GENE-EXPRESSION

KW - DROSOPHILA

KW - METABOLISM

KW - MORPHOLOGY

KW - DISEASE

KW - CELLS

U2 - 10.1242/dmm.026476

DO - 10.1242/dmm.026476

M3 - Article

C2 - 28067622

VL - 10

SP - 105

EP - 118

JO - Disease Models & Mechanisms

JF - Disease Models & Mechanisms

SN - 1754-8403

IS - 2

ER -