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
Format:	Article
Published:	2020
Subjects:	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 gene expression regulation gene silencing genetics HEK293 cell line homozygote 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 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
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/173796
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Institution:	National University of Singapore

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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
_version_	1800914191730606080

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

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