Samanta Gallo1, Patrizia Trevisi1, Chiara Rigon2, Ezio Caserta1, Dario Seif Ali2, Roberto Bovo1, Alessandro Martini1, Matteo Cassina3. 1. Otolaryngology Unit, Department of Neurosciences, University of Padova, Padova, Italy. 2. Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy. 3. Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy, matteo.cassina@unipd.it.
Abstract
INTRODUCTION: Non-syndromic hereditary hearing loss is characterized by extreme genetic heterogeneity. So far, more than 100 pathogenic or likely pathogenic variants in TMC1 gene have been reported in patients with autosomal recessive hearing loss (HL) DFNB7/11. The prevailing auditory phenotype of individuals with DFNB7/11 is congenital, profound, bilateral HL, but the functional outcome after cochlear implantation (CI) described in the literature is variable. The objective of this work is to evaluate the auditory outcome after CI in pediatric patients with DFNB7/11, born to non-consanguineous parents. METHODS: A retrospective analysis of genetic and audiological data of DFNB7/11 patients followed up in a single Italian otolaryngology clinic was performed. Cases with biallelic pathogenic variants in TMC1 were selected from the cohort of children with non-syndromic hearing loss who had undergone CI and had been molecularly characterized by multigene panel testing. All patients underwent extensive audiological assessment, and the auditory outcome after CI was evaluated. RESULTS: DFNB7/11 was diagnosed in a total of 3 patients from 2 non-consanguineous families; a novel disease-causing variant in TMC1 was detected [c.962G>A p.(Trp321*)]. All the affected children showed the typical DFNB7/11 phenotype characterized by prelingual, severe-to-profound HL. The patients showed an excellent functional outcome after CI; speech perception, nonverbal cognition, and speech performance were comparable to those of patients with DFNB1 deafness. DISCUSSION/ CONCLUSION: Our results do not support the variable auditory outcome reported in the literature, which may be affected by several social and environmental factors and by the genetic background.
INTRODUCTION:Non-syndromic hereditary hearing loss is characterized by extreme genetic heterogeneity. So far, more than 100 pathogenic or likely pathogenic variants in TMC1 gene have been reported in patients with autosomal recessive hearing loss (HL) DFNB7/11. The prevailing auditory phenotype of individuals with DFNB7/11 is congenital, profound, bilateral HL, but the functional outcome after cochlear implantation (CI) described in the literature is variable. The objective of this work is to evaluate the auditory outcome after CI in pediatric patients with DFNB7/11, born to non-consanguineous parents. METHODS: A retrospective analysis of genetic and audiological data of DFNB7/11patients followed up in a single Italian otolaryngology clinic was performed. Cases with biallelic pathogenic variants in TMC1 were selected from the cohort of children with non-syndromic hearing loss who had undergone CI and had been molecularly characterized by multigene panel testing. All patients underwent extensive audiological assessment, and the auditory outcome after CI was evaluated. RESULTS:DFNB7/11 was diagnosed in a total of 3 patients from 2 non-consanguineous families; a novel disease-causing variant in TMC1 was detected [c.962G>A p.(Trp321*)]. All the affected children showed the typical DFNB7/11 phenotype characterized by prelingual, severe-to-profound HL. The patients showed an excellent functional outcome after CI; speech perception, nonverbal cognition, and speech performance were comparable to those of patients with DFNB1 deafness. DISCUSSION/ CONCLUSION: Our results do not support the variable auditory outcome reported in the literature, which may be affected by several social and environmental factors and by the genetic background.
Authors: Ugo Carraro; Giovanna Albertin; Alessandro Martini; Walter Giuriati; Diego Guidolin; Stefano Masiero; Helmut Kern; Christian Hofer; Andrea Marcante; Barbara Ravara Journal: Eur J Transl Myol Date: 2021-03-26
Authors: Minna Kraatari-Tiri; Maria K Haanpää; Tytti Willberg; Pia Pohjola; Riikka Keski-Filppula; Outi Kuismin; Jukka S Moilanen; Sanna Häkli; Elisa Rahikkala Journal: J Clin Med Date: 2022-03-26 Impact factor: 4.241
Authors: Ugo Carraro; Andrea Marcante; Barbara Ravara; Giovanna Albertin; Maria Chiara Maccarone; Francesco Piccione; Helmut Kern; Stefano Masiero Journal: Aging Clin Exp Res Date: 2021-05-28 Impact factor: 3.636