TITLE

Strategies for genetic study of hearing loss in the Brazilian northeastern region

AUTHOR(S)
Melo, Uirá S.; Santos, Silvana; Cavalcanti, Hannalice G.; Andrade, Wagner T.; Dantas, Vitor G.; Rosa, Marine R. D.; Mingroni-Netto, Regina C.
PUB. DATE
January 2014
SOURCE
International Journal of Molecular Epidemiology & Genetics;2014, Vol. 5 Issue 1, p11
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The overall aim of this study was to estimate the contribution of genetic factors to the etiology of hearing loss (HL) in two counties in the Brazilian northeastern region. A cross-sectional study, based on the key informant approach (KI) was conducted in Queimadas and Gado Bravo counties (Paraíba, Northeast Brazil). The sample consisted of 182 patients with HL. Genetic screening of the most frequent mutations associated with HL was performed for all samples. DFNB1 mutations were the most frequently found in both counties. The c.35delG mutation was detected in homozygosis in seven non-syndromic probands in Queimadas (7/76, 9.2%) and only a single homozygote with this mutation was found in Gado Bravo (1/44, 2.3%). We also detected the del(GJB6-D13S1854) mutation in non-syndromic probands from Gado Bravo (2/44, 4.5%). The c.189C>A (p.TyrY63*) mutation in the CLRN1 gene was detected in homozygosis in 21/23 Usher syndrome patients from Gado Bravo and it was not found in Queimadas. Cases with probable genetic etiology contributed approximately to half of HL probands in each county (54.6% in Gado Bravo and 45.7% in Queimadas). We confirm the importance of DFNB1 locus to non-syndromic HL but we show that the frequency of mutations in the northeastern region differs somewhat from those reported in southeastern Brazil and other populations. In addition, the extremely high frequency of individuals with Usher syndrome with c.189C>A variation in CLRN1 indicates the need for a specific screening of this mutation.
ACCESSION #
94755379

 

Related Articles

  • GJB2 35delG and Mitochondrial A1555G Mutations and Etiology of Deafness at the Gelibolu School for the Deaf in Turkey. Silan, Fatma; Guclu, Oguz; Kadioglu, Laliz Esin; Silan, Coskun; Atik, Sinem; Uludag, Ahmet; Demiray, Asli; Ozdemir, Ozturk; Derekoy, Fevzi Sefa // Journal of International Advanced Otology;2011, Vol. 7 Issue 3, p361 

    Objective: 35delG mutation in the GJB2 (gap junction protein beta 2, connexin 26) gene is the most frequent mutation in patients with non-syndromic autosomal recessive deafness. The A1555G mutation in the mitochondrial 12S rRNA is another important genetic alteration, and is associated with...

  • Strategy for the Customized Mass Screening of Genetic Sensorineural Hearing Loss in Koreans. Mun Young Chang; Byung Yoon Choi // Korean Journal of Audiology;Sep2014, Vol. 18 Issue 2, p45 

    Hearing loss is one of the most common sensorineural disorder. More than half of congenital bilateral profound deafness cases have been estimated to be attributed to genetic cause. Identification of genetic cause can provide valuable information. We developed new diagnostic strategy combining...

  • SLC26A4 Mutations in Patients with Moderate to Severe Hearing Loss. Khan, Muhammad; Bashir, Rasheeda; Naz, Sadaf // Biochemical Genetics;Aug2013, Vol. 51 Issue 7/8, p514 

    Mutations in SLC26A4 cause either syndromic or nonsyndromic hearing loss. We identified a link between hearing loss and DFNB4 in 3 of the 50 families participating in this study. Sequencing analysis revealed two SLC26A4 mutations, p.V239D and p.S57X, in affected members of the 3 families. These...

  • The Role of Homocysteine in Tinnitus Etiology. Inancli, Hasan Mete; Inancli, Serap Soytac; Ural, Ahmet; Enoz, Murat; Kutluhan, Ahmet // Journal of International Advanced Otology;2011, Vol. 7 Issue 3, p339 

    Objectives: The aim of this study is to determine the relationship between homocysteine levels and tinnitus. Methodology: Ninety-nine patients admitted to our clinic with the complaint of tinnitus between June 2004 and January 2007 were included in our study. The patients were divided into four...

  • Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice. Rodriguez-Paris, Juan; Pique, Lynn; Colen, Tahl; Roberson, Joseph; Gardner, Phyllis; Schrijver, Iris // PLoS ONE;2010, Vol. 5 Issue 7, p1 

    Molecular diagnostic testing of individuals with congenital sensorineural hearing loss typically begins with DNA sequencing of the GJB2 gene. If the cause of the hearing loss is not identified in GJB2, additional testing can be ordered. However, the step-wise analysis of several genes often...

  • Clinical Presentation and the Presence of Hearing Impairment in Branchio-oculo-facial Syndrome: A New Mutation in the TFAP2A Gene. Thomeer, Henricus G. X. M.; Crins, Tom T. H.; Kamsteeg, Erik J.; Buijsman, Wendy; Cruysberg, Johannes R. M.; Knoers, Nine V. A. M.; Cremers, Cor W. R. J. // Annals of Otology, Rhinology & Laryngology;Dec2010, Vol. 119 Issue 12, p806 

    We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP- 2 A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on...

  • Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect. Mutlu-Albayrak, Hatice; Bene, Judit; Oflaz, Mehmet Burhan; Tanyalçın, Tijen; Çaksen, Hüseyin; Melegh, Bela // Case Reports in Genetics;5/5/2015, Vol. 2015, p1 

    Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case...

  • Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Lange, Stephan; Edström, Lars; Udd, Bjarne; Gautel, Mathias // Brain: A Journal of Neurology;Jun2014, Vol. 137 Issue 6, pe279 

    No abstract available.

  • ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. Gee, Heon Yung; Saisawat, Pawaree; Ashraf, Shazia; Hurd, Toby W.; Vega-Warner, Virginia; Fang, Humphrey; Beck, Bodo B.; Gribouval, Olivier; Zhou, Weibin; Diaz, Katrina A.; Natarajan, Sivakumar; Wiggins, Roger C.; Lovric, Svjetlana; Chernin, Gil; Schoeb, Dominik S.; Ovunc, Bugsu; Frishberg, Yaacov; Soliman, Neveen A.; Fathy, Hanan M.; Goebel, Heike // Journal of Clinical Investigation;Aug2013, Vol. 123 Issue 8, p3243 

    Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a multitude of unknown single-gene causes. We...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics