Similar phenotypes caused by mutations in otog and otogl

TY - JOUR

T1 - Similar phenotypes caused by mutations in otog and otogl

AU - Oonk, Anne M M

AU - Leijendeckers, Joop M.

AU - Huygen, Patrick L M

AU - Schraders, Margit

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

PY - 2014/1/1

Y1 - 2014/1/1

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.

KW - Autosomal recessive hearing loss

KW - Otogelin

KW - Otogelin-like

KW - Psychophysics

KW - Tectorial membrane.

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U2 - 10.1097/AUD.0000000000000008

DO - 10.1097/AUD.0000000000000008

M3 - Article

C2 - 24378291

AN - SCOPUS:84899627201

VL - 35

JO - Ear and Hearing

JF - Ear and Hearing

SN - 0196-0202

IS - 3

ER -