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Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss

Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs( *)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg1... Full description

Journal Title: American journal of human genetics 2012, Vol.91 (5), p.872-882
Main Author: Yariz, K.O
Other Authors: Duman, D , Seco, C.Z , Dallman, J , Huang, M , Peters, T.A , Sirmaci, A , Lu, N , Schraders, M , Skromne, I , Oostrik, J , Diaz-Horta, O , Young, J.I , Tokgoz-Yilmaz, S , Konukseven, O , Shahin, H , Hetterschijt, L , Kanaan, M , Oonk, A.M.M , Edwards, Y.J , Li, H , Atalay, S , Blanton, S , Desmidt, A.A , Liu, X.Z , Pennings, R.J.E , Lu, Z , Chen, Z.Y , Kremer, J.M.J , Tekin, M
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Cambridge, MA: Cell Press
ID: ISSN: 0002-9297
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3487139
title: Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
format: Article
creator:
  • Yariz, K.O
  • Duman, D
  • Seco, C.Z
  • Dallman, J
  • Huang, M
  • Peters, T.A
  • Sirmaci, A
  • Lu, N
  • Schraders, M
  • Skromne, I
  • Oostrik, J
  • Diaz-Horta, O
  • Young, J.I
  • Tokgoz-Yilmaz, S
  • Konukseven, O
  • Shahin, H
  • Hetterschijt, L
  • Kanaan, M
  • Oonk, A.M.M
  • Edwards, Y.J
  • Li, H
  • Atalay, S
  • Blanton, S
  • Desmidt, A.A
  • Liu, X.Z
  • Pennings, R.J.E
  • Lu, Z
  • Chen, Z.Y
  • Kremer, J.M.J
  • Tekin, M
subjects:
  • Adolescent
  • Animals
  • Article
  • Biological and medical sciences
  • Causes of
  • Child, Preschool
  • Chromosome Aberrations
  • Cochlea - metabolism
  • Cochlea - pathology
  • Danio rerio
  • Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
  • Exome
  • Fundamental and applied biological sciences. Psychology
  • Gene Expression Profiling
  • Gene Knockdown Techniques
  • Gene mutations
  • Genetic aspects
  • Genetic transcription
  • Genetics
  • Genetics of eukaryotes. Biological and molecular evolution
  • Genetics(clinical)
  • Hearing loss
  • Hearing Loss, Sensorineural - diagnosis
  • Hearing Loss, Sensorineural - genetics
  • Humans
  • INDEL Mutation
  • Labyrinth (Ear)
  • Male
  • Medical genetics
  • Medical sciences
  • Membrane Proteins - genetics
  • Membranes
  • Mice
  • Molecular and cellular biology
  • Mutation
  • Non tumoral diseases
  • otorhinolaryngologic diseases
  • Otorhinolaryngology. Stomatology
  • Physiological aspects
  • Polymorphism, Single Nucleotide
  • Proteins
  • Rats
  • sense organs
  • Vertebrates
  • Zebrafish
ispartof: American journal of human genetics, 2012, Vol.91 (5), p.872-882
description: Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs( *)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg183( *)) and c.5238+5G>A, in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss. OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mucin protein family. We demonstrate that Otogl is expressed in the inner ear of vertebrates with a transcription level that is high in embryonic, lower in neonatal, and much lower in adult stages. Otogelin-like is localized to the acellular membranes of the cochlea and the vestibular system and to a variety of inner ear cells located underneath these membranes. Knocking down of otogl with morpholinos in zebrafish leads to sensorineural hearing loss and anatomical changes in the inner ear, supporting that otogelin-like is essential for normal inner ear function. We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleMutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
sourceAlma/SFX Local Collection
creatorYariz, K.O ; Duman, D ; Seco, C.Z ; Dallman, J ; Huang, M ; Peters, T.A ; Sirmaci, A ; Lu, N ; Schraders, M ; Skromne, I ; Oostrik, J ; Diaz-Horta, O ; Young, J.I ; Tokgoz-Yilmaz, S ; Konukseven, O ; Shahin, H ; Hetterschijt, L ; Kanaan, M ; Oonk, A.M.M ; Edwards, Y.J ; Li, H ; Atalay, S ; Blanton, S ; Desmidt, A.A ; Liu, X.Z ; Pennings, R.J.E ; Lu, Z ; Chen, Z.Y ; Kremer, J.M.J ; Tekin, M
creatorcontribYariz, K.O ; Duman, D ; Seco, C.Z ; Dallman, J ; Huang, M ; Peters, T.A ; Sirmaci, A ; Lu, N ; Schraders, M ; Skromne, I ; Oostrik, J ; Diaz-Horta, O ; Young, J.I ; Tokgoz-Yilmaz, S ; Konukseven, O ; Shahin, H ; Hetterschijt, L ; Kanaan, M ; Oonk, A.M.M ; Edwards, Y.J ; Li, H ; Atalay, S ; Blanton, S ; Desmidt, A.A ; Liu, X.Z ; Pennings, R.J.E ; Lu, Z ; Chen, Z.Y ; Kremer, J.M.J ; Tekin, M
descriptionHereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs( *)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg183( *)) and c.5238+5G>A, in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss. OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mucin protein family. We demonstrate that Otogl is expressed in the inner ear of vertebrates with a transcription level that is high in embryonic, lower in neonatal, and much lower in adult stages. Otogelin-like is localized to the acellular membranes of the cochlea and the vestibular system and to a variety of inner ear cells located underneath these membranes. Knocking down of otogl with morpholinos in zebrafish leads to sensorineural hearing loss and anatomical changes in the inner ear, supporting that otogelin-like is essential for normal inner ear function. We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss.
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languageeng
publisherCambridge, MA: Cell Press
subjectAdolescent ; Animals ; Article ; Biological and medical sciences ; Causes of ; Child, Preschool ; Chromosome Aberrations ; Cochlea - metabolism ; Cochlea - pathology ; Danio rerio ; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology ; Exome ; Fundamental and applied biological sciences. Psychology ; Gene Expression Profiling ; Gene Knockdown Techniques ; Gene mutations ; Genetic aspects ; Genetic transcription ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genetics(clinical) ; Hearing loss ; Hearing Loss, Sensorineural - diagnosis ; Hearing Loss, Sensorineural - genetics ; Humans ; INDEL Mutation ; Labyrinth (Ear) ; Male ; Medical genetics ; Medical sciences ; Membrane Proteins - genetics ; Membranes ; Mice ; Molecular and cellular biology ; Mutation ; Non tumoral diseases ; otorhinolaryngologic diseases ; Otorhinolaryngology. Stomatology ; Physiological aspects ; Polymorphism, Single Nucleotide ; Proteins ; Rats ; sense organs ; Vertebrates ; Zebrafish
ispartofAmerican journal of human genetics, 2012, Vol.91 (5), p.872-882
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2Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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42012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics
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0Yariz, K.O
1Duman, D
2Seco, C.Z
3Dallman, J
4Huang, M
5Peters, T.A
6Sirmaci, A
7Lu, N
8Schraders, M
9Skromne, I
10Oostrik, J
11Diaz-Horta, O
12Young, J.I
13Tokgoz-Yilmaz, S
14Konukseven, O
15Shahin, H
16Hetterschijt, L
17Kanaan, M
18Oonk, A.M.M
19Edwards, Y.J
20Li, H
21Atalay, S
22Blanton, S
23Desmidt, A.A
24Liu, X.Z
25Pennings, R.J.E
26Lu, Z
27Chen, Z.Y
28Kremer, J.M.J
29Tekin, M
title
0Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
1American journal of human genetics
addtitleAm J Hum Genet
descriptionHereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs( *)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg183( *)) and c.5238+5G>A, in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss. OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mucin protein family. We demonstrate that Otogl is expressed in the inner ear of vertebrates with a transcription level that is high in embryonic, lower in neonatal, and much lower in adult stages. Otogelin-like is localized to the acellular membranes of the cochlea and the vestibular system and to a variety of inner ear cells located underneath these membranes. Knocking down of otogl with morpholinos in zebrafish leads to sensorineural hearing loss and anatomical changes in the inner ear, supporting that otogelin-like is essential for normal inner ear function. We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss.
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0Adolescent
1Animals
2Article
3Biological and medical sciences
4Causes of
5Child, Preschool
6Chromosome Aberrations
7Cochlea - metabolism
8Cochlea - pathology
9Danio rerio
10Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
11Exome
12Fundamental and applied biological sciences. Psychology
13Gene Expression Profiling
14Gene Knockdown Techniques
15Gene mutations
16Genetic aspects
17Genetic transcription
18Genetics
19Genetics of eukaryotes. Biological and molecular evolution
20Genetics(clinical)
21Hearing loss
22Hearing Loss, Sensorineural - diagnosis
23Hearing Loss, Sensorineural - genetics
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27Male
28Medical genetics
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30Membrane Proteins - genetics
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33Molecular and cellular biology
34Mutation
35Non tumoral diseases
36otorhinolaryngologic diseases
37Otorhinolaryngology. Stomatology
38Physiological aspects
39Polymorphism, Single Nucleotide
40Proteins
41Rats
42sense organs
43Vertebrates
44Zebrafish
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1Duman, D
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4Huang, M
5Peters, T.A
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15Shahin, H
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titleMutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
authorYariz, K.O ; Duman, D ; Seco, C.Z ; Dallman, J ; Huang, M ; Peters, T.A ; Sirmaci, A ; Lu, N ; Schraders, M ; Skromne, I ; Oostrik, J ; Diaz-Horta, O ; Young, J.I ; Tokgoz-Yilmaz, S ; Konukseven, O ; Shahin, H ; Hetterschijt, L ; Kanaan, M ; Oonk, A.M.M ; Edwards, Y.J ; Li, H ; Atalay, S ; Blanton, S ; Desmidt, A.A ; Liu, X.Z ; Pennings, R.J.E ; Lu, Z ; Chen, Z.Y ; Kremer, J.M.J ; Tekin, M
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1Animals
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4Causes of
5Child, Preschool
6Chromosome Aberrations
7Cochlea - metabolism
8Cochlea - pathology
9Danio rerio
10Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
11Exome
12Fundamental and applied biological sciences. Psychology
13Gene Expression Profiling
14Gene Knockdown Techniques
15Gene mutations
16Genetic aspects
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19Genetics of eukaryotes. Biological and molecular evolution
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21Hearing loss
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35Non tumoral diseases
36otorhinolaryngologic diseases
37Otorhinolaryngology. Stomatology
38Physiological aspects
39Polymorphism, Single Nucleotide
40Proteins
41Rats
42sense organs
43Vertebrates
44Zebrafish
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7Lu, N
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abstractHereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs( *)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg183( *)) and c.5238+5G>A, in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss. OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mucin protein family. We demonstrate that Otogl is expressed in the inner ear of vertebrates with a transcription level that is high in embryonic, lower in neonatal, and much lower in adult stages. Otogelin-like is localized to the acellular membranes of the cochlea and the vestibular system and to a variety of inner ear cells located underneath these membranes. Knocking down of otogl with morpholinos in zebrafish leads to sensorineural hearing loss and anatomical changes in the inner ear, supporting that otogelin-like is essential for normal inner ear function. We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss.
copCambridge, MA
pubCell Press
pmid23122586
doi10.1016/j.ajhg.2012.09.011
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