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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). / Thoenes, Michaela; Zimmermann, Ulrike; Ebermann, Inga; Ptok, Martin; Lewis, Morag A; Thiele, Holger; Morlot, Susanne; Hess, Markus M; Gal, Andreas; Eisenberger, Tobias; Bergmann, Carsten; Nürnberg, Gudrun; Nürnberg, Peter; Steel, Karen P; Knipper, Marlies; Bolz, Hanno Jörn.

In: ORPHANET J RARE DIS, Vol. 10, 2015, p. 15.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Thoenes, M, Zimmermann, U, Ebermann, I, Ptok, M, Lewis, MA, Thiele, H, Morlot, S, Hess, MM, Gal, A, Eisenberger, T, Bergmann, C, Nürnberg, G, Nürnberg, P, Steel, KP, Knipper, M & Bolz, HJ 2015, 'OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)', ORPHANET J RARE DIS, vol. 10, pp. 15. https://doi.org/10.1186/s13023-015-0238-5

APA

Thoenes, M., Zimmermann, U., Ebermann, I., Ptok, M., Lewis, M. A., Thiele, H., Morlot, S., Hess, M. M., Gal, A., Eisenberger, T., Bergmann, C., Nürnberg, G., Nürnberg, P., Steel, K. P., Knipper, M., & Bolz, H. J. (2015). OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). ORPHANET J RARE DIS, 10, 15. https://doi.org/10.1186/s13023-015-0238-5

Vancouver

Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H et al. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). ORPHANET J RARE DIS. 2015;10:15. https://doi.org/10.1186/s13023-015-0238-5

Bibtex

@article{e7175a57c8424e2f8cfd56177de7481f,
title = "OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)",
abstract = "BACKGROUND: Early-onset hearing loss is mostly of genetic origin. The complexity of the hearing process is reflected by its extensive genetic heterogeneity, with probably many causative genes remaining to be identified. Here, we aimed at identifying the genetic basis for autosomal dominant non-syndromic hearing loss (ADNSHL) in a large German family.METHODS: A panel of 66 known deafness genes was analyzed for mutations by next-generation sequencing (NGS) in the index patient. We then conducted genome-wide linkage analysis, and whole-exome sequencing was carried out with samples of two patients. Expression of Osbpl2 in the mouse cochlea was determined by immunohistochemistry. Because Osbpl2 has been proposed as a target of miR-96, we investigated homozygous Mir96 mutant mice for its upregulation.RESULTS: Onset of hearing loss in the investigated ADNSHL family is in childhood, initially affecting the high frequencies and progressing to profound deafness in adulthood. However, there is considerable intrafamilial variability. We mapped a novel ADNSHL locus, DFNA67, to chromosome 20q13.2-q13.33, and subsequently identified a co-segregating heterozygous frameshift mutation, c.141_142delTG (p.Arg50Alafs*103), in OSBPL2, encoding a protein known to interact with the DFNA1 protein, DIAPH1. In mice, Osbpl2 was prominently expressed in stereocilia of cochlear outer and inner hair cells. We found no significant Osbpl2 upregulation at the mRNA level in homozygous Mir96 mutant mice.CONCLUSION: The function of OSBPL2 in the hearing process remains to be determined. Our study and the recent description of another frameshift mutation in a Chinese ADNSHL family identify OSBPL2 as a novel gene for progressive deafness.",
author = "Michaela Thoenes and Ulrike Zimmermann and Inga Ebermann and Martin Ptok and Lewis, {Morag A} and Holger Thiele and Susanne Morlot and Hess, {Markus M} and Andreas Gal and Tobias Eisenberger and Carsten Bergmann and Gudrun N{\"u}rnberg and Peter N{\"u}rnberg and Steel, {Karen P} and Marlies Knipper and Bolz, {Hanno J{\"o}rn}",
year = "2015",
doi = "10.1186/s13023-015-0238-5",
language = "English",
volume = "10",
pages = "15",
journal = "ORPHANET J RARE DIS",
issn = "1750-1172",
publisher = "BioMed Central Ltd.",

}

RIS

TY - JOUR

T1 - OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

AU - Thoenes, Michaela

AU - Zimmermann, Ulrike

AU - Ebermann, Inga

AU - Ptok, Martin

AU - Lewis, Morag A

AU - Thiele, Holger

AU - Morlot, Susanne

AU - Hess, Markus M

AU - Gal, Andreas

AU - Eisenberger, Tobias

AU - Bergmann, Carsten

AU - Nürnberg, Gudrun

AU - Nürnberg, Peter

AU - Steel, Karen P

AU - Knipper, Marlies

AU - Bolz, Hanno Jörn

PY - 2015

Y1 - 2015

N2 - BACKGROUND: Early-onset hearing loss is mostly of genetic origin. The complexity of the hearing process is reflected by its extensive genetic heterogeneity, with probably many causative genes remaining to be identified. Here, we aimed at identifying the genetic basis for autosomal dominant non-syndromic hearing loss (ADNSHL) in a large German family.METHODS: A panel of 66 known deafness genes was analyzed for mutations by next-generation sequencing (NGS) in the index patient. We then conducted genome-wide linkage analysis, and whole-exome sequencing was carried out with samples of two patients. Expression of Osbpl2 in the mouse cochlea was determined by immunohistochemistry. Because Osbpl2 has been proposed as a target of miR-96, we investigated homozygous Mir96 mutant mice for its upregulation.RESULTS: Onset of hearing loss in the investigated ADNSHL family is in childhood, initially affecting the high frequencies and progressing to profound deafness in adulthood. However, there is considerable intrafamilial variability. We mapped a novel ADNSHL locus, DFNA67, to chromosome 20q13.2-q13.33, and subsequently identified a co-segregating heterozygous frameshift mutation, c.141_142delTG (p.Arg50Alafs*103), in OSBPL2, encoding a protein known to interact with the DFNA1 protein, DIAPH1. In mice, Osbpl2 was prominently expressed in stereocilia of cochlear outer and inner hair cells. We found no significant Osbpl2 upregulation at the mRNA level in homozygous Mir96 mutant mice.CONCLUSION: The function of OSBPL2 in the hearing process remains to be determined. Our study and the recent description of another frameshift mutation in a Chinese ADNSHL family identify OSBPL2 as a novel gene for progressive deafness.

AB - BACKGROUND: Early-onset hearing loss is mostly of genetic origin. The complexity of the hearing process is reflected by its extensive genetic heterogeneity, with probably many causative genes remaining to be identified. Here, we aimed at identifying the genetic basis for autosomal dominant non-syndromic hearing loss (ADNSHL) in a large German family.METHODS: A panel of 66 known deafness genes was analyzed for mutations by next-generation sequencing (NGS) in the index patient. We then conducted genome-wide linkage analysis, and whole-exome sequencing was carried out with samples of two patients. Expression of Osbpl2 in the mouse cochlea was determined by immunohistochemistry. Because Osbpl2 has been proposed as a target of miR-96, we investigated homozygous Mir96 mutant mice for its upregulation.RESULTS: Onset of hearing loss in the investigated ADNSHL family is in childhood, initially affecting the high frequencies and progressing to profound deafness in adulthood. However, there is considerable intrafamilial variability. We mapped a novel ADNSHL locus, DFNA67, to chromosome 20q13.2-q13.33, and subsequently identified a co-segregating heterozygous frameshift mutation, c.141_142delTG (p.Arg50Alafs*103), in OSBPL2, encoding a protein known to interact with the DFNA1 protein, DIAPH1. In mice, Osbpl2 was prominently expressed in stereocilia of cochlear outer and inner hair cells. We found no significant Osbpl2 upregulation at the mRNA level in homozygous Mir96 mutant mice.CONCLUSION: The function of OSBPL2 in the hearing process remains to be determined. Our study and the recent description of another frameshift mutation in a Chinese ADNSHL family identify OSBPL2 as a novel gene for progressive deafness.

U2 - 10.1186/s13023-015-0238-5

DO - 10.1186/s13023-015-0238-5

M3 - SCORING: Journal article

C2 - 25759012

VL - 10

SP - 15

JO - ORPHANET J RARE DIS

JF - ORPHANET J RARE DIS

SN - 1750-1172

ER -