A Eliot Shearer1, Richard J H Smith. 1. Department of Otolaryngology - Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA.
Abstract
PURPOSE OF REVIEW: To provide an update on recently discovered human deafness genes and to describe advances in comprehensive genetic testing platforms for deafness, both of which have been enabled by new massively parallel sequencing technologies. RECENT FINDINGS: Over the review period, three syndromic and six nonsyndromic deafness genes have been discovered, bringing the total number of nonsyndromic deafness genes to 64. Four studies have shown the utility of massively parallel sequencing for comprehensive genetic testing for deafness. Three of these platforms have been released on a clinical or commercial basis. SUMMARY: Deafness is the most common sensory deficit in humans. Genetic diagnosis has traditionally been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For these reasons, comprehensive genetic screening platforms have been developed with the use of massively parallel sequencing. These technologies are also accelerating the pace of gene discovery for deafness. Because genetic diagnosis is the basis for molecular therapies, these advances lay the foundation for the clinical care of deaf and hard-of-hearing persons in the future.
PURPOSE OF REVIEW: To provide an update on recently discovered humandeafness genes and to describe advances in comprehensive genetic testing platforms for deafness, both of which have been enabled by new massively parallel sequencing technologies. RECENT FINDINGS: Over the review period, three syndromic and six nonsyndromic deafness genes have been discovered, bringing the total number of nonsyndromic deafness genes to 64. Four studies have shown the utility of massively parallel sequencing for comprehensive genetic testing for deafness. Three of these platforms have been released on a clinical or commercial basis. SUMMARY:Deafness is the most common sensory deficit in humans. Genetic diagnosis has traditionally been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For these reasons, comprehensive genetic screening platforms have been developed with the use of massively parallel sequencing. These technologies are also accelerating the pace of gene discovery for deafness. Because genetic diagnosis is the basis for molecular therapies, these advances lay the foundation for the clinical care of deaf and hard-of-hearing persons in the future.
Authors: Zubair M Ahmed; Rizwan Yousaf; Byung Cheon Lee; Shaheen N Khan; Sue Lee; Kwanghyuk Lee; Tayyab Husnain; Atteeq Ur Rehman; Sarah Bonneux; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal; Vadim N Gladyshev; Inna A Belyantseva; Guy Van Camp; Sheikh Riazuddin; Thomas B Friedman; Saima Riazuddin Journal: Am J Hum Genet Date: 2010-12-23 Impact factor: 11.025
Authors: Jing Zheng; Katharine K Miller; Tao Yang; Michael S Hildebrand; A Eliot Shearer; Adam P DeLuca; Todd E Scheetz; Jennifer Drummond; Steve E Scherer; P Kevin Legan; Richard J Goodyear; Guy P Richardson; Mary Ann Cheatham; Richard J Smith; Peter Dallos Journal: Proc Natl Acad Sci U S A Date: 2011-02-22 Impact factor: 11.205
Authors: Guntram Borck; Atteeq Ur Rehman; Kwanghyuk Lee; Hans-Martin Pogoda; Naseebullah Kakar; Simon von Ameln; Nicolas Grillet; Michael S Hildebrand; Zubair M Ahmed; Gudrun Nürnberg; Muhammad Ansar; Sulman Basit; Qamar Javed; Robert J Morell; Nabilah Nasreen; A Eliot Shearer; Adeel Ahmad; Kimia Kahrizi; Rehan S Shaikh; Rana A Ali; Shaheen N Khan; Ingrid Goebel; Nicole C Meyer; William J Kimberling; Jennifer A Webster; Dietrich A Stephan; Martin R Schiller; Melanie Bahlo; Hossein Najmabadi; Peter G Gillespie; Peter Nürnberg; Bernd Wollnik; Saima Riazuddin; Richard J H Smith; Wasim Ahmad; Ulrich Müller; Matthias Hammerschmidt; Thomas B Friedman; Sheikh Riazuddin; Suzanne M Leal; Jamil Ahmad; Christian Kubisch Journal: Am J Hum Genet Date: 2011-01-20 Impact factor: 11.025
Authors: Sarah B Pierce; Karen M Chisholm; Eric D Lynch; Ming K Lee; Tom Walsh; John M Opitz; Weiqing Li; Rachel E Klevit; Mary-Claire King Journal: Proc Natl Acad Sci U S A Date: 2011-04-04 Impact factor: 11.205
Authors: Margit Schraders; Stefan A Haas; Nicole J D Weegerink; Jaap Oostrik; Hao Hu; Lies H Hoefsloot; Sriram Kannan; Patrick L M Huygen; Ronald J E Pennings; Ronald J C Admiraal; Vera M Kalscheuer; Henricus P M Kunst; Hannie Kremer Journal: Am J Hum Genet Date: 2011-05-05 Impact factor: 11.025
Authors: Nikoletta Charizopoulou; Andrea Lelli; Margit Schraders; Kausik Ray; Michael S Hildebrand; Arabandi Ramesh; C R Srikumari Srisailapathy; Jaap Oostrik; Ronald J C Admiraal; Harold R Neely; Joseph R Latoche; Richard J H Smith; John K Northup; Hannie Kremer; Jeffrey R Holt; Konrad Noben-Trauth Journal: Nat Commun Date: 2011-02-15 Impact factor: 14.919
Authors: Christopher J Klein; Maria-Victoria Botuyan; Yanhong Wu; Christopher J Ward; Garth A Nicholson; Simon Hammans; Kaori Hojo; Hiromitch Yamanishi; Adam R Karpf; Douglas C Wallace; Mariella Simon; Cecilie Lander; Lisa A Boardman; Julie M Cunningham; Glenn E Smith; William J Litchy; Benjamin Boes; Elizabeth J Atkinson; Sumit Middha; P James B Dyck; Joseph E Parisi; Georges Mer; David I Smith; Peter J Dyck Journal: Nat Genet Date: 2011-05-01 Impact factor: 38.330
Authors: Paul D Judge; Erik Jorgensen; Monica Lopez-Vazquez; Patricia Roush; Thomas A Page; Mary Pat Moeller; J Bruce Tomblin; Lenore Holte; Craig Buchman Journal: Ear Hear Date: 2019 Jul/Aug Impact factor: 3.570
Authors: Christina G S Palmer; Patrick Boudreault; Erin E Baldwin; Michelle Fox; Joshua L Deignan; Yoko Kobayashi; Yvonne Sininger; Wayne Grody; Janet S Sinsheimer Journal: J Genet Couns Date: 2013-02-21 Impact factor: 2.537
Authors: Mallory R Tollefson; Jacob M Litman; Guowei Qi; Claire E O'Connell; Matthew J Wipfler; Robert J Marini; Hernan V Bernabe; William T A Tollefson; Terry A Braun; Thomas L Casavant; Richard J H Smith; Michael J Schnieders Journal: Biophys J Date: 2019-07-03 Impact factor: 4.033
Authors: Celia Zazo Seco; Anne M M Oonk; María Domínguez-Ruiz; Jos M T Draaisma; Marta Gandía; Jaap Oostrik; Kornelia Neveling; Henricus P M Kunst; Lies H Hoefsloot; Ignacio del Castillo; Ronald J E Pennings; Hannie Kremer; Ronald J C Admiraal; Margit Schraders Journal: Eur J Hum Genet Date: 2014-04-30 Impact factor: 4.246