Molecular approach of auditory neuropathy
Main Author: | |
---|---|
Publication Date: | 2015 |
Other Authors: | , |
Format: | Article |
Language: | eng |
Source: | Brazilian Journal of Otorhinolaryngology |
Download full: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942015000300321 |
Summary: | INTRODUCTION: Mutations in the otoferlin gene are responsible for auditory neuropathy. OBJECTIVE: To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy. METHODS: This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects. DNA was extracted from peripheral blood leukocytes, and the mutations in the otoferlin gene sites were amplified by polymerase chain reaction/restriction fragment length polymorphism. RESULTS: The 16 index cases included nine (56%) females and seven (44%) males. The 13 deaf patients comprised seven (54%) males and six (46%) females. Among the 20 normal-hearing subjects, 13 (65%) were males and seven were (35%) females. Thirteen (81%) index cases had wild-type genotype (AA) and three (19%) had the heterozygous AG genotype for IVS8-2A-G (intron 8) mutation. The 5473C-G (exon 44) mutation was found in a heterozygous state (CG) in seven (44%) index cases and nine (56%) had the wild-type allele (CC). Of these mutants, two (25%) were compound heterozygotes for the mutations found in intron 8 and exon 44. All patients with sensorineural hearing loss and normal-hearing individuals did not have mutations (100%). CONCLUSION: There are differences at the molecular level in patients with and without auditory neuropathy. |
id |
ABORL-F-1_93e77ba198c11da5a62381d84065ab67 |
---|---|
oai_identifier_str |
oai:scielo:S1808-86942015000300321 |
network_acronym_str |
ABORL-F-1 |
network_name_str |
Brazilian Journal of Otorhinolaryngology |
repository_id_str |
|
spelling |
Molecular approach of auditory neuropathyDeafnessGenesMolecular biologyMutation INTRODUCTION: Mutations in the otoferlin gene are responsible for auditory neuropathy. OBJECTIVE: To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy. METHODS: This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects. DNA was extracted from peripheral blood leukocytes, and the mutations in the otoferlin gene sites were amplified by polymerase chain reaction/restriction fragment length polymorphism. RESULTS: The 16 index cases included nine (56%) females and seven (44%) males. The 13 deaf patients comprised seven (54%) males and six (46%) females. Among the 20 normal-hearing subjects, 13 (65%) were males and seven were (35%) females. Thirteen (81%) index cases had wild-type genotype (AA) and three (19%) had the heterozygous AG genotype for IVS8-2A-G (intron 8) mutation. The 5473C-G (exon 44) mutation was found in a heterozygous state (CG) in seven (44%) index cases and nine (56%) had the wild-type allele (CC). Of these mutants, two (25%) were compound heterozygotes for the mutations found in intron 8 and exon 44. All patients with sensorineural hearing loss and normal-hearing individuals did not have mutations (100%). CONCLUSION: There are differences at the molecular level in patients with and without auditory neuropathy. Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial.2015-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942015000300321Brazilian Journal of Otorhinolaryngology v.81 n.3 2015reponame:Brazilian Journal of Otorhinolaryngologyinstname:Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)instacron:ABORL-CCF10.1016/j.bjorl.2015.03.005info:eu-repo/semantics/openAccessSilva,Magali Aparecida Orate Menezes daPiatto,Vânia BelintaniManiglia,Jose Victoreng2015-07-14T00:00:00Zoai:scielo:S1808-86942015000300321Revistahttp://www.bjorl.org.br/https://old.scielo.br/oai/scielo-oai.phprevista@aborlccf.org.br||revista@aborlccf.org.br1808-86861808-8686opendoar:2015-07-14T00:00Brazilian Journal of Otorhinolaryngology - Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)false |
dc.title.none.fl_str_mv |
Molecular approach of auditory neuropathy |
title |
Molecular approach of auditory neuropathy |
spellingShingle |
Molecular approach of auditory neuropathy Silva,Magali Aparecida Orate Menezes da Deafness Genes Molecular biology Mutation |
title_short |
Molecular approach of auditory neuropathy |
title_full |
Molecular approach of auditory neuropathy |
title_fullStr |
Molecular approach of auditory neuropathy |
title_full_unstemmed |
Molecular approach of auditory neuropathy |
title_sort |
Molecular approach of auditory neuropathy |
author |
Silva,Magali Aparecida Orate Menezes da |
author_facet |
Silva,Magali Aparecida Orate Menezes da Piatto,Vânia Belintani Maniglia,Jose Victor |
author_role |
author |
author2 |
Piatto,Vânia Belintani Maniglia,Jose Victor |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Silva,Magali Aparecida Orate Menezes da Piatto,Vânia Belintani Maniglia,Jose Victor |
dc.subject.por.fl_str_mv |
Deafness Genes Molecular biology Mutation |
topic |
Deafness Genes Molecular biology Mutation |
description |
INTRODUCTION: Mutations in the otoferlin gene are responsible for auditory neuropathy. OBJECTIVE: To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy. METHODS: This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects. DNA was extracted from peripheral blood leukocytes, and the mutations in the otoferlin gene sites were amplified by polymerase chain reaction/restriction fragment length polymorphism. RESULTS: The 16 index cases included nine (56%) females and seven (44%) males. The 13 deaf patients comprised seven (54%) males and six (46%) females. Among the 20 normal-hearing subjects, 13 (65%) were males and seven were (35%) females. Thirteen (81%) index cases had wild-type genotype (AA) and three (19%) had the heterozygous AG genotype for IVS8-2A-G (intron 8) mutation. The 5473C-G (exon 44) mutation was found in a heterozygous state (CG) in seven (44%) index cases and nine (56%) had the wild-type allele (CC). Of these mutants, two (25%) were compound heterozygotes for the mutations found in intron 8 and exon 44. All patients with sensorineural hearing loss and normal-hearing individuals did not have mutations (100%). CONCLUSION: There are differences at the molecular level in patients with and without auditory neuropathy. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942015000300321 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942015000300321 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1016/j.bjorl.2015.03.005 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. |
publisher.none.fl_str_mv |
Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. |
dc.source.none.fl_str_mv |
Brazilian Journal of Otorhinolaryngology v.81 n.3 2015 reponame:Brazilian Journal of Otorhinolaryngology instname:Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF) instacron:ABORL-CCF |
instname_str |
Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF) |
instacron_str |
ABORL-CCF |
institution |
ABORL-CCF |
reponame_str |
Brazilian Journal of Otorhinolaryngology |
collection |
Brazilian Journal of Otorhinolaryngology |
repository.name.fl_str_mv |
Brazilian Journal of Otorhinolaryngology - Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF) |
repository.mail.fl_str_mv |
revista@aborlccf.org.br||revista@aborlccf.org.br |
_version_ |
1754575991403970560 |