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

10.1242/dmm.026476

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Main Authors: Seco, C.Z, Castells-Noba A., Joo, S.-H, 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., Tranebjarg, L., Van Wijk, E., Scheffer-De Gooyert, J.M., Siddique, S., Baets, J., De Jonghe, P., Kazmi, S.A.R., Sadananthan, S.A, Van De Warrenburg, B.P., Khor, C.C, Göpfert, M.C., Qamar, R., Schenck, A., Kremer, H., Siddiqi, S.
Other Authors: MEDICINE
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Published: 2020
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Online Access:https://scholarbank.nus.edu.sg/handle/10635/173796
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spelling sg-nus-scholar.10635-1737962024-04-25T06:05:51Z A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy Seco, C.Z Castells-Noba A. Joo, S.-H 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. Tranebjarg, L. Van Wijk, E. Scheffer-De Gooyert, J.M. Siddique, S. Baets, J. De Jonghe, P. Kazmi, S.A.R. Sadananthan, S.A Van De Warrenburg, B.P. Khor, C.C Göpfert, M.C. Qamar, R. Schenck, A. Kremer, H. Siddiqi, S. MEDICINE OBSTETRICS & GYNAECOLOGY BIOCHEMISTRY aspartate aminotransferase creatine kinase fitm2 protein lactate dehydrogenase protein unclassified drug Drosophila protein fat droplet FIT2 protein, human membrane protein adolescent adult Article child clinical article clinical examination clinical observation Drosophila melanogaster dystonia fat content female fruit fly model gene mutation genetic counseling genetic variation hearing impairment homozygosity human ichthyosis lipid storage loss of function mutation male nonsense mutation Pakistani perception deafness phenotype priority journal protein expression pure tone audiometry sensory neuropathy tympanometry whole exome sequencing animal blood complication deafblindness disease model dystonia gene expression regulation gene silencing genetics hearing impairment HEK293 cell line homozygote ichthyosis intellectual impairment liver locomotion metabolism motor activity mutation nucleotide sequence obesity optic nerve atrophy pathology pathophysiology pedigree sensory nerve cell stop codon young adult Adiposity Animals Audiometry, Pure-Tone Base Sequence Child Codon, Nonsense Deaf-Blind Disorders Disease Models, Animal Drosophila melanogaster Drosophila Proteins Dystonia Female Gene Expression Regulation Gene Knockdown Techniques Hearing Loss HEK293 Cells Homozygote Humans Ichthyosis Intellectual Disability Lipid Droplets Liver Locomotion Male Membrane Proteins Motor Activity Mutation Optic Atrophy Pedigree Sensory Receptor Cells Whole Exome Sequencing Young Adult 10.1242/dmm.026476 DMM Disease Models and Mechanisms 10 2 105-118 2020-09-01T00:56:30Z 2020-09-01T00:56:30Z 2017 Article Seco, C.Z, Castells-Noba A., Joo, S.-H, 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., Tranebjarg, L., Van Wijk, E., Scheffer-De Gooyert, J.M., Siddique, S., Baets, J., De Jonghe, P., Kazmi, S.A.R., Sadananthan, S.A, Van De Warrenburg, B.P., Khor, C.C, Göpfert, M.C., 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. DMM Disease Models and Mechanisms 10 (2) : 105-118. ScholarBank@NUS Repository. https://doi.org/10.1242/dmm.026476 17548403 https://scholarbank.nus.edu.sg/handle/10635/173796 Unpaywall 20200831
institution National University of Singapore
building NUS Library
continent Asia
country Singapore
Singapore
content_provider NUS Library
collection ScholarBank@NUS
topic aspartate aminotransferase
creatine kinase
fitm2 protein
lactate dehydrogenase
protein
unclassified drug
Drosophila protein
fat droplet
FIT2 protein, human
membrane protein
adolescent
adult
Article
child
clinical article
clinical examination
clinical observation
Drosophila melanogaster
dystonia
fat content
female
fruit fly model
gene mutation
genetic counseling
genetic variation
hearing impairment
homozygosity
human
ichthyosis
lipid storage
loss of function mutation
male
nonsense mutation
Pakistani
perception deafness
phenotype
priority journal
protein expression
pure tone audiometry
sensory neuropathy
tympanometry
whole exome sequencing
animal
blood
complication
deafblindness
disease model
dystonia
gene expression regulation
gene silencing
genetics
hearing impairment
HEK293 cell line
homozygote
ichthyosis
intellectual impairment
liver
locomotion
metabolism
motor activity
mutation
nucleotide sequence
obesity
optic nerve atrophy
pathology
pathophysiology
pedigree
sensory nerve cell
stop codon
young adult
Adiposity
Animals
Audiometry, Pure-Tone
Base Sequence
Child
Codon, Nonsense
Deaf-Blind Disorders
Disease Models, Animal
Drosophila melanogaster
Drosophila Proteins
Dystonia
Female
Gene Expression Regulation
Gene Knockdown Techniques
Hearing Loss
HEK293 Cells
Homozygote
Humans
Ichthyosis
Intellectual Disability
Lipid Droplets
Liver
Locomotion
Male
Membrane Proteins
Motor Activity
Mutation
Optic Atrophy
Pedigree
Sensory Receptor Cells
Whole Exome Sequencing
Young Adult
spellingShingle aspartate aminotransferase
creatine kinase
fitm2 protein
lactate dehydrogenase
protein
unclassified drug
Drosophila protein
fat droplet
FIT2 protein, human
membrane protein
adolescent
adult
Article
child
clinical article
clinical examination
clinical observation
Drosophila melanogaster
dystonia
fat content
female
fruit fly model
gene mutation
genetic counseling
genetic variation
hearing impairment
homozygosity
human
ichthyosis
lipid storage
loss of function mutation
male
nonsense mutation
Pakistani
perception deafness
phenotype
priority journal
protein expression
pure tone audiometry
sensory neuropathy
tympanometry
whole exome sequencing
animal
blood
complication
deafblindness
disease model
dystonia
gene expression regulation
gene silencing
genetics
hearing impairment
HEK293 cell line
homozygote
ichthyosis
intellectual impairment
liver
locomotion
metabolism
motor activity
mutation
nucleotide sequence
obesity
optic nerve atrophy
pathology
pathophysiology
pedigree
sensory nerve cell
stop codon
young adult
Adiposity
Animals
Audiometry, Pure-Tone
Base Sequence
Child
Codon, Nonsense
Deaf-Blind Disorders
Disease Models, Animal
Drosophila melanogaster
Drosophila Proteins
Dystonia
Female
Gene Expression Regulation
Gene Knockdown Techniques
Hearing Loss
HEK293 Cells
Homozygote
Humans
Ichthyosis
Intellectual Disability
Lipid Droplets
Liver
Locomotion
Male
Membrane Proteins
Motor Activity
Mutation
Optic Atrophy
Pedigree
Sensory Receptor Cells
Whole Exome Sequencing
Young Adult
Seco, C.Z
Castells-Noba A.
Joo, S.-H
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.
Tranebjarg, L.
Van Wijk, E.
Scheffer-De Gooyert, J.M.
Siddique, S.
Baets, J.
De Jonghe, P.
Kazmi, S.A.R.
Sadananthan, S.A
Van De Warrenburg, B.P.
Khor, C.C
Göpfert, M.C.
Qamar, R.
Schenck, A.
Kremer, H.
Siddiqi, S.
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
description 10.1242/dmm.026476
author2 MEDICINE
author_facet MEDICINE
Seco, C.Z
Castells-Noba A.
Joo, S.-H
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.
Tranebjarg, L.
Van Wijk, E.
Scheffer-De Gooyert, J.M.
Siddique, S.
Baets, J.
De Jonghe, P.
Kazmi, S.A.R.
Sadananthan, S.A
Van De Warrenburg, B.P.
Khor, C.C
Göpfert, M.C.
Qamar, R.
Schenck, A.
Kremer, H.
Siddiqi, S.
format Article
author Seco, C.Z
Castells-Noba A.
Joo, S.-H
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.
Tranebjarg, L.
Van Wijk, E.
Scheffer-De Gooyert, J.M.
Siddique, S.
Baets, J.
De Jonghe, P.
Kazmi, S.A.R.
Sadananthan, S.A
Van De Warrenburg, B.P.
Khor, C.C
Göpfert, M.C.
Qamar, R.
Schenck, A.
Kremer, H.
Siddiqi, S.
author_sort Seco, C.Z
title A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_short A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_full A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_fullStr A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_full_unstemmed A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
title_sort homozygous fitm2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
publishDate 2020
url https://scholarbank.nus.edu.sg/handle/10635/173796
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