OBJECTIVES: To review the current state of knowledge about the influence of specific genetic mutations that cause sensorineural hearing loss (SNHL) on cochlear implant (CI) functional outcomes, and how this knowledge may be integrated into clinical practice. A multistep and sequential population-based genetic algorithm suitable for the identification of congenital SNHL mutations before CI placement is also examined. DATA SOURCES, STUDY SELECTION: A review was performed of the English literature from 2000 to 2019 using PubMed regarding the influence of specific mutations on CI outcomes and the use of next-generation sequencing for genetic screening of CI patients. CONCLUSION: CI is an effective habilitation option for patients with severe-profound congenital SNHL. However, it is well known that CI outcomes show substantial inter-patient variation. Recent advances in genetic studies have improved our understanding of genotype-phenotype relationships for many of the mutations underlying congenital SNHL, and have explored how these relationships may account for some of the variance seen in CI performance outcomes. A sequential genetic screening strategy utilizing next-generation sequencing-based population-specific gene panels may allow for more efficient mutation identification before CI placement. Understanding the relationships between specific mutations and CI outcomes along with integrating routine comprehensive genetic testing into pre-CI evaluations will allow for more effective patient counseling and open the door for the development of mutation-specific treatment strategies.
OBJECTIVES: To review the current state of knowledge about the influence of specific genetic mutations that cause sensorineural hearing loss (SNHL) on cochlear implant (CI) functional outcomes, and how this knowledge may be integrated into clinical practice. A multistep and sequential population-based genetic algorithm suitable for the identification of congenital SNHL mutations before CI placement is also examined. DATA SOURCES, STUDY SELECTION: A review was performed of the English literature from 2000 to 2019 using PubMed regarding the influence of specific mutations on CI outcomes and the use of next-generation sequencing for genetic screening of CI patients. CONCLUSION: CI is an effective habilitation option for patients with severe-profound congenital SNHL. However, it is well known that CI outcomes show substantial inter-patient variation. Recent advances in genetic studies have improved our understanding of genotype-phenotype relationships for many of the mutations underlying congenital SNHL, and have explored how these relationships may account for some of the variance seen in CI performance outcomes. A sequential genetic screening strategy utilizing next-generation sequencing-based population-specific gene panels may allow for more efficient mutation identification before CI placement. Understanding the relationships between specific mutations and CI outcomes along with integrating routine comprehensive genetic testing into pre-CI evaluations will allow for more effective patient counseling and open the door for the development of mutation-specific treatment strategies.
Authors: An Boudewyns; Jenneke van den Ende; Manou Sommen; Wim Wuyts; Nils Peeters; Paul Van de Heyning; Guy Van Camp Journal: Otol Neurotol Date: 2018-07 Impact factor: 2.311
Authors: Ronald J E Pennings; Godelieve W J A Damen; Ad F M Snik; Lies Hoefsloot; Cor W R J Cremers; Emmanuel A M Mylanus Journal: Laryngoscope Date: 2006-05 Impact factor: 3.325
Authors: Laura K Holden; Jill B Firszt; Ruth M Reeder; Rosalie M Uchanski; Noël Y Dwyer; Timothy A Holden Journal: Otol Neurotol Date: 2016-12 Impact factor: 2.311
Authors: N G Robertson; L Lu; S Heller; S N Merchant; R D Eavey; M McKenna; J B Nadol; R T Miyamoto; F H Linthicum; J F Lubianca Neto; A J Hudspeth; C E Seidman; C C Morton; J G Seidman Journal: Nat Genet Date: 1998-11 Impact factor: 38.330
Authors: Nahid G Robertson; Cor W R J Cremers; Patrick L M Huygen; Tetsuo Ikezono; Bryan Krastins; Hannie Kremer; Sharon F Kuo; M Charles Liberman; Saumil N Merchant; Constance E Miller; Joseph B Nadol; David A Sarracino; Wim I M Verhagen; Cynthia C Morton Journal: Hum Mol Genet Date: 2006-02-15 Impact factor: 6.150
Authors: Bryan J Liming; John Carter; Alan Cheng; Daniel Choo; John Curotta; Daniela Carvalho; John A Germiller; Stephen Hone; Margaret A Kenna; Natalie Loundon; Diego Preciado; Anne Schilder; Brian J Reilly; Stephane Roman; Julie Strychowsky; Jean-Michel Triglia; Nancy Young; Richard J H Smith Journal: Int J Pediatr Otorhinolaryngol Date: 2016-09-15 Impact factor: 1.675
Authors: Thomas Parzefall; Alexandra Frohne; Martin Koenighofer; Andreas Kirchnawy; Berthold Streubel; Christian Schoefer; Wolfgang Gstoettner; Klemens Frei; Trevor Lucas Journal: Wien Klin Wochenschr Date: 2017-07-21 Impact factor: 1.704
Authors: A Eliot Shearer; Viral D Tejani; Carolyn J Brown; Paul J Abbas; Marlan R Hansen; Bruce J Gantz; Richard J H Smith Journal: Sci Rep Date: 2018-09-21 Impact factor: 4.379