Evidence for genotype-phenotype correlation for OTOF mutations

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• 作者：Muzeyyen Yildirim-Baylan^a ; ^{muzeyyenyldrm@hotmail.com" class="auth_mail} ; ^{muzeyyenyldrm@gmail.com" class="auth_mail} ; Guney Bademci^b ; Duygu Duman^c ; Hatice Ozturkmen-Akay^d ; Suna Tokgoz-Yilmaz^c ; Mustafa Tekin^b ; ^c ; ^{mtekin@med.miami.edu" class="auth_mail}
• 关键词：Auditory neuropathy ; Autosomal recessive ; Hearing loss ; OTOF
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：June 2014
• 年：2014
• 卷：78
• 期：6
• 页码：950-953
• 全文大小：523 K

文摘

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.