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Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss
Joint Authors
Tessa, Alessandra
Vilarinho, Laura
Santorelli, Filippo M.
Pereira, Cristina
Coutinho, Miguel
Nogueira, Célia
Source
Genetics Research International
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-09-25
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly.
To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes, GJB2 and GJB6, in the non-syndromic patients.
Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G).
We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84).
Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.
American Psychological Association (APA)
Nogueira, Célia& Coutinho, Miguel& Pereira, Cristina& Tessa, Alessandra& Santorelli, Filippo M.& Vilarinho, Laura. 2011. Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss. Genetics Research International،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-483065
Modern Language Association (MLA)
Nogueira, Célia…[et al.]. Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss. Genetics Research International No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-483065
American Medical Association (AMA)
Nogueira, Célia& Coutinho, Miguel& Pereira, Cristina& Tessa, Alessandra& Santorelli, Filippo M.& Vilarinho, Laura. Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss. Genetics Research International. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-483065
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-483065