Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.

Genetics Research International
Célia NogueiraLaura Vilarinho

Abstract

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-tRNA(Trp) 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.

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Citations

Oct 21, 2015·International Journal of Pediatric Otorhinolaryngology·Mariana DóriaCarla Pinto Moura
May 14, 2016·European Journal of Medical Genetics·Amina BakhchaneAbdelhamid Barakat
May 23, 2015·The Annals of Otology, Rhinology, and Laryngology·Keita TsukadaShin-Ichi Usami

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Methods Mentioned

BETA
aminoacylation

Software Mentioned

Polyphen
SIFT
ClustalW

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