Similar phenotypes caused by mutations in otog and otogl

Anne M M Oonk, Joop M. Leijendeckers, Patrick L M Huygen, Margit Schraders, Miguel Del Campo, Ignacio Del Castillo, Mustafa Tekin, Ilse Feenstra, Andy J. Beynon, Henricus P M Kunst, Ad F M Snik, Hannie Kremer, Ronald J C Admiraal, Ronald J E Pennings

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

OBJECTIVES:: Recently, OTOG and OTOGL were identified as human deafness genes. Currently, only four families are known to have autosomal recessive hearing loss based on mutations in these genes. Because the two genes code for proteins (otogelin and otogelin-like) that are strikingly similar in structure and localization in the inner ear, this study is focused on characterizing and comparing the hearing loss caused by mutations in these genes. DESIGN:: To evaluate this type of hearing, an extensive set of audiometric and vestibular examinations was performed in the 13 patients from four families. RESULTS:: All families show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good (>90%). Hearing loss is not significantly different in the four families and the psychophysical test results also do not differ among the families. Vestibular examinations show evidence for vestibular hyporeflexia. CONCLUSION:: Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. Results of psychophysical examinations, however, do not support this. Furthermore, the authors conclude that there are no phenotypic differences between hearing loss based on mutations in OTOG or OTOGL. This phenotype description will facilitate counseling of hearing loss caused by defects in either of these two genes.

Original languageEnglish
JournalEar and Hearing
Volume35
Issue number3
DOIs
StatePublished - Jan 1 2014

Fingerprint

Hearing Loss
Phenotype
Mutation
Sensorineural Hearing Loss
Genes
Tectorial Membrane
Conductive Hearing Loss
Abnormal Reflexes
Deafness
Inner Ear
Hearing
Counseling
Proteins

Keywords

  • Autosomal recessive hearing loss
  • Otogelin
  • Otogelin-like
  • Psychophysics
  • Tectorial membrane.

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Speech and Hearing

Cite this

Oonk, A. M. M., Leijendeckers, J. M., Huygen, P. L. M., Schraders, M., Del Campo, M., Del Castillo, I., ... Pennings, R. J. E. (2014). Similar phenotypes caused by mutations in otog and otogl. Ear and Hearing, 35(3). https://doi.org/10.1097/AUD.0000000000000008

Similar phenotypes caused by mutations in otog and otogl. / Oonk, Anne M M; Leijendeckers, Joop M.; Huygen, Patrick L M; Schraders, Margit; Del Campo, Miguel; Del Castillo, Ignacio; Tekin, Mustafa; Feenstra, Ilse; Beynon, Andy J.; Kunst, Henricus P M; Snik, Ad F M; Kremer, Hannie; Admiraal, Ronald J C; Pennings, Ronald J E.

In: Ear and Hearing, Vol. 35, No. 3, 01.01.2014.

Research output: Contribution to journalArticle

Oonk, AMM, Leijendeckers, JM, Huygen, PLM, Schraders, M, Del Campo, M, Del Castillo, I, Tekin, M, Feenstra, I, Beynon, AJ, Kunst, HPM, Snik, AFM, Kremer, H, Admiraal, RJC & Pennings, RJE 2014, 'Similar phenotypes caused by mutations in otog and otogl', Ear and Hearing, vol. 35, no. 3. https://doi.org/10.1097/AUD.0000000000000008
Oonk AMM, Leijendeckers JM, Huygen PLM, Schraders M, Del Campo M, Del Castillo I et al. Similar phenotypes caused by mutations in otog and otogl. Ear and Hearing. 2014 Jan 1;35(3). https://doi.org/10.1097/AUD.0000000000000008
Oonk, Anne M M ; Leijendeckers, Joop M. ; Huygen, Patrick L M ; Schraders, Margit ; Del Campo, Miguel ; Del Castillo, Ignacio ; Tekin, Mustafa ; Feenstra, Ilse ; Beynon, Andy J. ; Kunst, Henricus P M ; Snik, Ad F M ; Kremer, Hannie ; Admiraal, Ronald J C ; Pennings, Ronald J E. / Similar phenotypes caused by mutations in otog and otogl. In: Ear and Hearing. 2014 ; Vol. 35, No. 3.
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AU - Del Campo, Miguel

AU - Del Castillo, Ignacio

AU - Tekin, Mustafa

AU - Feenstra, Ilse

AU - Beynon, Andy J.

AU - Kunst, Henricus P M

AU - Snik, Ad F M

AU - Kremer, Hannie

AU - Admiraal, Ronald J C

AU - Pennings, Ronald J E

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N2 - OBJECTIVES:: Recently, OTOG and OTOGL were identified as human deafness genes. Currently, only four families are known to have autosomal recessive hearing loss based on mutations in these genes. Because the two genes code for proteins (otogelin and otogelin-like) that are strikingly similar in structure and localization in the inner ear, this study is focused on characterizing and comparing the hearing loss caused by mutations in these genes. DESIGN:: To evaluate this type of hearing, an extensive set of audiometric and vestibular examinations was performed in the 13 patients from four families. RESULTS:: All families show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good (>90%). Hearing loss is not significantly different in the four families and the psychophysical test results also do not differ among the families. Vestibular examinations show evidence for vestibular hyporeflexia. CONCLUSION:: Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. Results of psychophysical examinations, however, do not support this. Furthermore, the authors conclude that there are no phenotypic differences between hearing loss based on mutations in OTOG or OTOGL. This phenotype description will facilitate counseling of hearing loss caused by defects in either of these two genes.

AB - OBJECTIVES:: Recently, OTOG and OTOGL were identified as human deafness genes. Currently, only four families are known to have autosomal recessive hearing loss based on mutations in these genes. Because the two genes code for proteins (otogelin and otogelin-like) that are strikingly similar in structure and localization in the inner ear, this study is focused on characterizing and comparing the hearing loss caused by mutations in these genes. DESIGN:: To evaluate this type of hearing, an extensive set of audiometric and vestibular examinations was performed in the 13 patients from four families. RESULTS:: All families show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good (>90%). Hearing loss is not significantly different in the four families and the psychophysical test results also do not differ among the families. Vestibular examinations show evidence for vestibular hyporeflexia. CONCLUSION:: Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. Results of psychophysical examinations, however, do not support this. Furthermore, the authors conclude that there are no phenotypic differences between hearing loss based on mutations in OTOG or OTOGL. This phenotype description will facilitate counseling of hearing loss caused by defects in either of these two genes.

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