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
Y1 - 2014
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
SP - e84-e91
JO - Ear and Hearing
JF - Ear and Hearing
SN - 0196-0202
IS - 3
ER -