Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment
© 2013 Elsevier B.V. All rights reserved..
Hearing impairment is characterized by great genetic heterogeneity. We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. Parental genotypes allowed us to conclude that these mutations are present in the compound heterozygous state in the patient. In addition, our clinical data establish that the tectorial membrane and/or the outer hair cells are defective in this form of deafness.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2013 |
|---|---|
| Erschienen: |
2013 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:527 |
|---|---|
| Enthalten in: |
Gene - 527(2013), 2 vom: 25. Sept., Seite 537-40 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Bonnet, C [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Completed 30.10.2013 Date Revised 03.12.2021 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.gene.2013.06.044 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM229133886 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM229133886 | ||
| 003 | DE-627 | ||
| 005 | 20231224081500.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231224s2013 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.gene.2013.06.044 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n0763.xml |
| 035 | |a (DE-627)NLM229133886 | ||
| 035 | |a (NLM)23850727 | ||
| 035 | |a (PII)S0378-1119(13)00801-9 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Bonnet, C |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment |
| 264 | 1 | |c 2013 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 30.10.2013 | ||
| 500 | |a Date Revised 03.12.2021 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2013 Elsevier B.V. All rights reserved. | ||
| 520 | |a Hearing impairment is characterized by great genetic heterogeneity. We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. Parental genotypes allowed us to conclude that these mutations are present in the compound heterozygous state in the patient. In addition, our clinical data establish that the tectorial membrane and/or the outer hair cells are defective in this form of deafness | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a ABRs | |
| 650 | 4 | |a ACPTA | |
| 650 | 4 | |a AbfB | |
| 650 | 4 | |a Air conduction pure-tone average | |
| 650 | 4 | |a Alpha-l-arabinofuranosidaseB-like domain | |
| 650 | 4 | |a Auditory brainstem responses | |
| 650 | 4 | |a Base pair | |
| 650 | 4 | |a C-terminal cystine knot domain | |
| 650 | 4 | |a C8 | |
| 650 | 4 | |a CT | |
| 650 | 4 | |a CT scan | |
| 650 | 4 | |a Computed tomography scan | |
| 650 | 4 | |a Cysteine-rich domain | |
| 650 | 4 | |a DNA | |
| 650 | 4 | |a DPOAEs | |
| 650 | 4 | |a Deep RNA sequencing | |
| 650 | 4 | |a Deoxyribonucleic acid | |
| 650 | 4 | |a Distortion product of otoacoustic emissions | |
| 650 | 4 | |a EGF-like | |
| 650 | 4 | |a Epidermal growth factor-like domain | |
| 650 | 4 | |a Exome sequencing | |
| 650 | 4 | |a GJB2 | |
| 650 | 4 | |a Gap junction beta-2 protein | |
| 650 | 4 | |a Hearing impairment | |
| 650 | 4 | |a IHCs | |
| 650 | 4 | |a Inner ear | |
| 650 | 4 | |a Inner hair cells | |
| 650 | 4 | |a MYO7A | |
| 650 | 4 | |a Micrograms | |
| 650 | 4 | |a Myosin 7A | |
| 650 | 4 | |a OHCs | |
| 650 | 4 | |a OTOF | |
| 650 | 4 | |a OTOG | |
| 650 | 4 | |a OTOGL | |
| 650 | 4 | |a Otoacoustic emissions | |
| 650 | 4 | |a Otoferlin | |
| 650 | 4 | |a Otogelin | |
| 650 | 4 | |a Otogelin-like | |
| 650 | 4 | |a Outer hair cells | |
| 650 | 4 | |a SNP | |
| 650 | 4 | |a SP | |
| 650 | 4 | |a STRC | |
| 650 | 4 | |a Signal peptide | |
| 650 | 4 | |a Single Nucleotide Polymorphism Database | |
| 650 | 4 | |a Single nucleotide polymorphism | |
| 650 | 4 | |a Stereocilin | |
| 650 | 4 | |a TIL | |
| 650 | 4 | |a Trypsin inhibitor-like domain | |
| 650 | 4 | |a bp | |
| 650 | 4 | |a dB | |
| 650 | 4 | |a dBSNP | |
| 650 | 4 | |a decibel | |
| 650 | 4 | |a kHz | |
| 650 | 4 | |a kilo Hertz | |
| 650 | 4 | |a vWF | |
| 650 | 4 | |a von Willebrand factor-like domain | |
| 650 | 4 | |a μg | |
| 650 | 7 | |a Codon, Nonsense |2 NLM | |
| 650 | 7 | |a Connexins |2 NLM | |
| 650 | 7 | |a GJB2 protein, human |2 NLM | |
| 650 | 7 | |a Membrane Glycoproteins |2 NLM | |
| 650 | 7 | |a OTOG protein, human |2 NLM | |
| 650 | 7 | |a Connexin 26 |2 NLM | |
| 650 | 7 | |a 127120-53-0 |2 NLM | |
| 700 | 1 | |a Louha, M |e verfasserin |4 aut | |
| 700 | 1 | |a Loundon, N |e verfasserin |4 aut | |
| 700 | 1 | |a Michalski, N |e verfasserin |4 aut | |
| 700 | 1 | |a Verpy, E |e verfasserin |4 aut | |
| 700 | 1 | |a Smagghe, L |e verfasserin |4 aut | |
| 700 | 1 | |a Hardelin, J-P |e verfasserin |4 aut | |
| 700 | 1 | |a Rouillon, I |e verfasserin |4 aut | |
| 700 | 1 | |a Jonard, L |e verfasserin |4 aut | |
| 700 | 1 | |a Couderc, R |e verfasserin |4 aut | |
| 700 | 1 | |a Gherbi, S |e verfasserin |4 aut | |
| 700 | 1 | |a Garabedian, E N |e verfasserin |4 aut | |
| 700 | 1 | |a Denoyelle, F |e verfasserin |4 aut | |
| 700 | 1 | |a Petit, C |e verfasserin |4 aut | |
| 700 | 1 | |a Marlin, S |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Gene |d 1979 |g 527(2013), 2 vom: 25. Sept., Seite 537-40 |w (DE-627)NLM000233951 |x 1879-0038 |7 nnns |
| 773 | 1 | 8 | |g volume:527 |g year:2013 |g number:2 |g day:25 |g month:09 |g pages:537-40 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.gene.2013.06.044 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 527 |j 2013 |e 2 |b 25 |c 09 |h 537-40 | ||