Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report
Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and girl, presenting with neurosensorial profound deafne...
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/623860 |
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| author | Joana Rita Chora Helena Simões-Teixeira Tiago Daniel Matos Jorge Humberto Martins Marisa Alves Raquel Ferreira Luís Silva Carlos Ribeiro Graça Fialho Helena Caria |
| author_facet | Joana Rita Chora Helena Simões-Teixeira Tiago Daniel Matos Jorge Humberto Martins Marisa Alves Raquel Ferreira Luís Silva Carlos Ribeiro Graça Fialho Helena Caria |
| author_sort | Joana Rita Chora |
| collection | DOAJ |
| description | Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and girl, presenting with neurosensorial profound deafness prior CI (age of implantation = 3.5 years old). Both parents have severe/profound deafness, since childhood, and use sign language as primary mode of communication. Clinical and genetic characterization was performed, as well as the assessment of the auditory and oral (re)habilitation after CI, applying a battery of audiological, speech, and language tests.
The twin girl and the father were homozygous for the c.35delG mutation in the GJB2 gene, while the twin boy and the mother were compound heterozygotes, both monoallelic for c.35delG and for the deletion del(GJB6-D13S1830) in the GJB6 gene. The remaining hearing impaired relatives were c.35delG homozygotes. The genetic cause of deafness was thus identified in this family. Some noteworthy differences were observed regarding twins’ auditory and oral performance after CI. Subsequent follow-up of these children allowed us to conclude that those differences were most likely due to the different environment in which the twins have been living than to their different GJB2/GJB6 genotypes. |
| format | Article |
| id | doaj-art-2feaf6e147924df5b85130b8d759d4d2 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-2feaf6e147924df5b85130b8d759d4d22025-02-03T01:02:43ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/623860623860Two Portuguese Cochlear Implanted Dizygotic Twins: A Case ReportJoana Rita Chora0Helena Simões-Teixeira1Tiago Daniel Matos2Jorge Humberto Martins3Marisa Alves4Raquel Ferreira5Luís Silva6Carlos Ribeiro7Graça Fialho8Helena Caria9Center for Biodiversity, Functional and Integrative Genomics, Faculty of Science, University of Lisbon, 1749-016 Lisbon, PortugalCenter for Biodiversity, Functional and Integrative Genomics, Faculty of Science, University of Lisbon, 1749-016 Lisbon, PortugalCenter for Biodiversity, Functional and Integrative Genomics, Faculty of Science, University of Lisbon, 1749-016 Lisbon, PortugalENT Department, Centro Hospitalar de Coimbra, Quinta dos Vales 3041-801 S. Martinho do Bispo, Coimbra, PortugalENT Department, Centro Hospitalar de Coimbra, Quinta dos Vales 3041-801 S. Martinho do Bispo, Coimbra, PortugalENT Department, Centro Hospitalar de Coimbra, Quinta dos Vales 3041-801 S. Martinho do Bispo, Coimbra, PortugalENT Department, Centro Hospitalar de Coimbra, Quinta dos Vales 3041-801 S. Martinho do Bispo, Coimbra, PortugalENT Department, Centro Hospitalar de Coimbra, Quinta dos Vales 3041-801 S. Martinho do Bispo, Coimbra, PortugalCenter for Biodiversity, Functional and Integrative Genomics, Faculty of Science, University of Lisbon, 1749-016 Lisbon, PortugalCenter for Biodiversity, Functional and Integrative Genomics, Faculty of Science, University of Lisbon, 1749-016 Lisbon, PortugalIndividual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and girl, presenting with neurosensorial profound deafness prior CI (age of implantation = 3.5 years old). Both parents have severe/profound deafness, since childhood, and use sign language as primary mode of communication. Clinical and genetic characterization was performed, as well as the assessment of the auditory and oral (re)habilitation after CI, applying a battery of audiological, speech, and language tests. The twin girl and the father were homozygous for the c.35delG mutation in the GJB2 gene, while the twin boy and the mother were compound heterozygotes, both monoallelic for c.35delG and for the deletion del(GJB6-D13S1830) in the GJB6 gene. The remaining hearing impaired relatives were c.35delG homozygotes. The genetic cause of deafness was thus identified in this family. Some noteworthy differences were observed regarding twins’ auditory and oral performance after CI. Subsequent follow-up of these children allowed us to conclude that those differences were most likely due to the different environment in which the twins have been living than to their different GJB2/GJB6 genotypes.http://dx.doi.org/10.1155/2012/623860 |
| spellingShingle | Joana Rita Chora Helena Simões-Teixeira Tiago Daniel Matos Jorge Humberto Martins Marisa Alves Raquel Ferreira Luís Silva Carlos Ribeiro Graça Fialho Helena Caria Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report Case Reports in Genetics |
| title | Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report |
| title_full | Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report |
| title_fullStr | Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report |
| title_full_unstemmed | Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report |
| title_short | Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report |
| title_sort | two portuguese cochlear implanted dizygotic twins a case report |
| url | http://dx.doi.org/10.1155/2012/623860 |
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