Study of a Brazilian family presenting non-syndromic hearing loss with mitochondrial inheritance

Revista Brasileira de Otorrinolaringologia

Macedo, Lisandra S.¹  Pupo, Altair Cadrobbi¹  Lezirovitz, Karina¹  Mingroni Netto, Regina C.¹  Spinelli, Mauro¹  USP¹  Pirana, Sulene¹  PUC-SP¹  UNIFESP¹  Universidade de São Paulo¹ 

关键词: genetics;    mitochondrial inheritance;    hearing loss;    nonsyndromic hereditary deafness.;   

DOI  :  10.1590/S0034-72992008000500023

学科分类：医学（综合）

来源: Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervicofacial

【 摘 要 】

We hereby report on the audiological and genetic findings in individuals from a Brazilian family, with the following mitochondrial mutation A1555G in the 12SrRNA gene (MT-RNR-1). Nine individuals underwent speech, audiologic (tonal audiometry and logoaudiometry) and genetic evaluations. Eight individuals among the A1555G carriers were affected by hearing impairment and one person had normal hearing thresholds till the end of the present study. The audiologic evaluation results indicated normal hearing thresholds all the way to bilateral profound hearing loss with post-lingual onset and variable configuration. Two affected siblings presented progressive hearing loss. It was impossible to precise the time of hearing loss onset; however, the impairment was present in both children and adults. The genetic study revealed the A1555G mitochondrial mutation

【 授权许可】

Unknown