Evidence for genotype-phenotype correlation for OTOF mutations

Muzeyyen Yildirim-Baylan, Guney Bademci, Duygu Duman, Hatice Ozturkmen-Akay, Suna Tokgoz-Yilmaz, Mustafa Tekin

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 languageEnglish
Pages (from-to)950-953
Number of pages4
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume78
Issue number6
DOIs
StatePublished - Jan 1 2014

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Genetic Association Studies
Mutation
Sensorineural Hearing Loss
Phenotype
Acoustic Reflex
Acoustic Impedance Tests
Pure-Tone Audiometry
Brain Stem Auditory Evoked Potentials
Auditory neuropathy
Siblings
Genes

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 journalArticle

Yildirim-Baylan, M, Bademci, G, Duman, D, Ozturkmen-Akay, H, Tokgoz-Yilmaz, S & Tekin, M 2014, 'Evidence for genotype-phenotype correlation for OTOF mutations', International Journal of Pediatric Otorhinolaryngology, vol. 78, no. 6, pp. 950-953. https://doi.org/10.1016/j.ijporl.2014.03.022
Yildirim-Baylan, Muzeyyen ; Bademci, Guney ; Duman, Duygu ; Ozturkmen-Akay, Hatice ; Tokgoz-Yilmaz, Suna ; Tekin, Mustafa. / Evidence for genotype-phenotype correlation for OTOF mutations. In: International Journal of Pediatric Otorhinolaryngology. 2014 ; Vol. 78, No. 6. pp. 950-953.
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