title: Audiological and radiological characteristics of a family with T961G mitochondrial mutation.
abstract: OBJECTIVE
  The aim of this study was to describe audiological and radiological characteristics, and other secondary aspects, in a family carrying a T961G mutation in the 12S rRNA mitochondrial gene.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Six members of a family participated in an audiological evaluation that included pure-tone audiometry, immittance tests, auditory brainstem responses (ABR), and otoacoustic emissions (OAE). The radiological evaluation was conducted through temporal bone CT scans using a Toshiba 16 channels Aquilon Spirale. Neuropsychiatric evaluation was also administered.
  
  
  RESULTS
  Three participants were diagnosed with severe sensorineural hearing loss of cochlear origin and cochlear malformations visible in CT scans. One participant had a mild mixed-hearing loss and no cochlear malformations. Two participants had normal audiological and radiological findings.
  
  
  CONCLUSIONS
  We believe our study can provide helpful insight on the clinical findings of a rare mutation, of which few data have been presented in literature.
authors.affiliation: Department of Sensory Systems, Policlinico Umberto I Hospital, Sapienza University, Rome, Italy.
authors.forename: Rosaria
authors.initials: R
authors.lastname: Turchetta
authors.forename: Filippo
authors.initials: F
authors.lastname: Mazzei
authors.forename: Tiziana
authors.initials: T
authors.lastname: Celani
authors.forename: Maria Gloria
authors.initials: MG
authors.lastname: Cammeresi
authors.forename: Maria Patrizia
authors.initials: MP
authors.lastname: Orlando
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Altissimi
authors.forename: Chiara
authors.initials: C
authors.lastname: de Vincentiis
authors.forename: Ferdinando
authors.initials: F
authors.lastname: D'Ambrosio
authors.forename: Daniela
authors.initials: D
authors.lastname: Messineo
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ferraris
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Cianfrone
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001301:Audiometry, Pure-Tone; D001307:Auditory Perception / Q000235:genetics; D001309:Auditory Threshold; D002648:Child; D002675:Child, Preschool; D003051:Cochlea / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D016057:Evoked Potentials, Auditory, Brain Stem / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006309:Hearing / Q000235:genetics*; D046089:Hearing Loss, Mixed Conductive-Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D040941:Heredity; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D017084:Otoacoustic Emissions, Spontaneous / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012335:RNA, Ribosomal / Q000235:genetics*; D036542:Tomography, Spiral Computed; D014723:Vestibular Aqueduct / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology
chemical_list: D000077278:RNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D012313:RNA