Literature DB >> 34652575

Genetic etiology of non-syndromic hearing loss in Latin America.

Karina Lezirovitz1, Regina Célia Mingroni-Netto2.   

Abstract

Latin America comprises all countries from South and Central America, in addition to Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic profiles regarding the geographical origin of the ancestors and proportions of admixture between the Native American, European and African components. In the first years following the findings of the role of the GJB2/GJB6 genes in the etiology of hearing loss, most scientific investigations about the genetics of hearing loss in Latin America focused on assessing the frequencies of pathogenic variants in these genes. More recently, modern techniques allowed researchers in Latin America to make exciting contributions to the finding of new candidate genes, novel mechanisms of inheritance in previously known genes, and characterize a wide diversity of variants, many of them unique to Latin America. This review aimed to provide a general landscape of the genetic studies about non-syndromic hearing loss in Latin America and their main scientific contributions. It allows the conclusion that, although there are similar contributions of some genes, such as GJB2/GJB6, when compared to European and North American countries, Latin American populations revealed some peculiarities that indicate the need for tailored strategies of screening and diagnosis to specific geographic regions.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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Year:  2021        PMID: 34652575     DOI: 10.1007/s00439-021-02354-4

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  116 in total

1.  Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".

Authors:  R S Abreu-Silva; A C Batissoco; K Lezirovitz; J Romanos; D Rincon; M T B M Auricchio; P A Otto; R C Mingroni-Netto
Journal:  Biochem Biophys Res Commun       Date:  2006-03-20       Impact factor: 3.575

2.  Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients.

Authors:  R S Abreu-Silva; K Lezirovitz; M C C Braga; M Spinelli; S Pirana; V A Della-Rosa; P A Otto; R C Mingroni-Netto
Journal:  Braz J Med Biol Res       Date:  2006-02-02       Impact factor: 2.590

3.  Comprehensive evaluation of risk factors for neonatal hearing loss in a large Brazilian cohort.

Authors:  Adriana R T Anastasio; Aparecida Y Yamamoto; Eduardo T Massuda; Alessandra K S Manfredi; Juliana M S Cavalcante; Bruno C P Lopes; Davi C Aragon; Suresh Boppana; Karen B Fowler; William J Britt; Marisa M Mussi-Pinhata
Journal:  J Perinatol       Date:  2020-09-03       Impact factor: 2.521

4.  GJB2 gene mutations in childhood deafness.

Authors:  S Angeli; R Utrera; S Dib; E Chiossone; C Naranjo; O Henríquez; M Porta
Journal:  Acta Otolaryngol       Date:  2000-03       Impact factor: 1.494

5.  A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family.

Authors:  A C Batissoco; M T B M Auricchio; L Kimura; A Tabith-Junior; R C Mingroni-Netto
Journal:  Braz J Med Biol Res       Date:  2009-02       Impact factor: 2.590

6.  Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.

Authors:  Vânia Belintani Piatto; Eny Maria Goloni Bertollo; Edi Lúcia Sartorato; José Victor Maniglia
Journal:  Hear Res       Date:  2004-10       Impact factor: 3.208

7.  Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

Authors:  Ana Carla Batissoco; Ronaldo Serafim Abreu-Silva; Maria Cristina Célia Braga; Karina Lezirovitz; Valter Della-Rosa; Tabith Alfredo; Paulo Alberto Otto; Regina Célia Mingroni-Netto
Journal:  Ear Hear       Date:  2009-02       Impact factor: 3.570

8.  Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.

Authors:  Rogério Marins Alves; Sueli Matilde da Silva Costa; Paulo Mauricio do Amôr Divino Miranda; Priscila Zonzini Ramos; Thiago Gibbin Marconi; Gisele Santos Oliveira; Arthur Menino Castilho; Edi Lúcia Sartorato
Journal:  BMC Med Genet       Date:  2016-05-26       Impact factor: 2.103

9.  Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Authors:  Guney Bademci; Joseph Foster; Nejat Mahdieh; Mortaza Bonyadi; Duygu Duman; F Basak Cengiz; Ibis Menendez; Oscar Diaz-Horta; Atefeh Shirkavand; Sirous Zeinali; Asli Subasioglu; Suna Tokgoz-Yilmaz; Fabiola Huesca-Hernandez; Maria de la Luz Arenas-Sordo; Juan Dominguez-Aburto; Edgar Hernandez-Zamora; Paola Montenegro; Rosario Paredes; Germania Moreta; Rodrigo Vinueza; Franklin Villegas; Santiago Mendoza-Benitez; Shengru Guo; Nazim Bozan; Tulay Tos; Armagan Incesulu; Gonca Sennaroglu; Susan H Blanton; Hatice Ozturkmen-Akay; Muzeyyen Yildirim-Baylan; Mustafa Tekin
Journal:  Genet Med       Date:  2015-07-30       Impact factor: 8.822

10.  Molecular investigation in children candidates and submitted to cochlear implantation.

Authors:  Raquel Bernardes; Silvana Bortoncello; Thalita Vitachi Christiani; Edi Lúcia Sartorato; Rodrigo César e Silva; Paulo R Cantanhede Porto
Journal:  Braz J Otorhinolaryngol       Date:  2006 May-Jun
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  1 in total

1.  Late onset of type 2 diabetes is associated with mitochondrial tRNATrp A5514G and tRNASer(AGY) C12237T mutations.

Authors:  Liuchun Yang; Qinxian Guo; Jianhang Leng; Keyi Wang; Yu Ding
Journal:  J Clin Lab Anal       Date:  2021-11-22       Impact factor: 2.352

  1 in total

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