Auditory measurements in parents of individuals with autosomal recessive hearing loss.

نویسندگان

  • Larissa Suyama da Silva
  • Regina Célia Mingroni Netto
  • Seisse Gabriela Gandolfi Sanches
  • Renata Mota Mamede Carvallo
چکیده

BACKGROUND Audiological evaluation of parents of individuals with autosomal recessive hearing loss. AIM To study the audiological profile of parents of individuals with autosomal recessive hearing loss, inferred by family history or by molecular tests that detected heterozygous mutations in the GJB2 gene. This gene codes Connexin 26. METHOD Participants were 36 subjects, ranging between 30 and 60 years, who were divided into two groups: a control group composed by individuals without auditory complaints and without family history of hearing loss, and a research group composed by heterozygous parents of individuals with autosomal recessive hearing loss or heterozygous for connexin 26 mutations. All subjects underwent pure tone audiometry (0.25 to 8 kHz), high frequencies audiometry (9 to 20 kHz) and distortion product otoacoustic emissions (DPOAE). RESULTS There were significant differences between the groups when considering the amplitude of DPOAE in the frequencies of 1001 and 1501 Hz. Amplitude was higher in the control group. There was no significant difference between the groups for pure tone thresholds from 0.25 to 20 KHz. CONCLUSION The DPOAE were more effective, in comparison to the pure tone audiometry, to detect auditory differences between the groups. More studies of this type are necessary to confirm the observed results.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

The worldwide frequency of MYO15A gene mutations in patients with autosomal recessive non-syndromic hearing loss: A meta‐analysis

MYO15A is the third most crucial gene in hereditary sensorineural hearing loss after GJB2 and SLC26A4. In the present study, we reviewed the prevalence of MYO15A mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL). In this meta-analysis, we conducted a search of PubMed, Web of Science, Excerpta Medica Database, and Scopus, and identified the articles up to Septemb...

متن کامل

Contribution of GJB2 Mutations and Four Common DFNB Loci in Autosomal Recessive Non-Syndromic Hearing Impairment in Markazi and Qom Provinces of Iran

This study aimed to investigate the contribution of four common DFNB (“DFN” for deafness and “B” for autosomal resessive locus) loci and GJB2 gene mutations (exon 2) in hearing impairment in individuals living in Markazi and Qom provinces of Iran. Forty consanguineous Iranian families with at least three affected individuals in family or pedigree who suffer from an autosomal recessive non-syndr...

متن کامل

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene

Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...

متن کامل

Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family

Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...

متن کامل

Investigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss

Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In  Iran, HL is one of the most common disabilitie...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Pro-fono : revista de atualizacao cientifica

دوره 22 4  شماره 

صفحات  -

تاریخ انتشار 2010