Abstract
Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. Results: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. Conclusions: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation.
| Original language | English |
|---|---|
| Pages (from-to) | 950-953 |
| Number of pages | 4 |
| Journal | International Journal of Pediatric Otorhinolaryngology |
| Volume | 78 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jan 1 2014 |
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Keywords
- Auditory neuropathy
- Autosomal recessive
- Hearing loss
- OTOF
ASJC Scopus subject areas
- Otorhinolaryngology
- Pediatrics, Perinatology, and Child Health
Cite this
Evidence for genotype-phenotype correlation for OTOF mutations. / Yildirim-Baylan, Muzeyyen; Bademci, Guney; Duman, Duygu; Ozturkmen-Akay, Hatice; Tokgoz-Yilmaz, Suna; Tekin, Mustafa.
In: International Journal of Pediatric Otorhinolaryngology, Vol. 78, No. 6, 01.01.2014, p. 950-953.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Evidence for genotype-phenotype correlation for OTOF mutations
AU - Yildirim-Baylan, Muzeyyen
AU - Bademci, Guney
AU - Duman, Duygu
AU - Ozturkmen-Akay, Hatice
AU - Tokgoz-Yilmaz, Suna
AU - Tekin, Mustafa
PY - 2014/1/1
Y1 - 2014/1/1
N2 - Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. Results: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. Conclusions: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation.
AB - Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. Results: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. Conclusions: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation.
KW - Auditory neuropathy
KW - Autosomal recessive
KW - Hearing loss
KW - OTOF
UR - http://www.scopus.com/inward/record.url?scp=84899905607&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84899905607&partnerID=8YFLogxK
U2 - 10.1016/j.ijporl.2014.03.022
DO - 10.1016/j.ijporl.2014.03.022
M3 - Article
VL - 78
SP - 950
EP - 953
JO - International Journal of Pediatric Otorhinolaryngology
JF - International Journal of Pediatric Otorhinolaryngology
SN - 0165-5876
IS - 6
ER -