High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays |
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| Authors: | Prachi Kothiyal Stephanie Cox Jonathan Ebert Ammar Husami Margaret A Kenna John H Greinwald Bruce J Aronow Heidi L Rehm |
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| Institution: | (1) Biomedical Informatics, Cincinnati Children's Hospital Medical Center, 45229 Cincinnati, Ohio, USA;(2) Department of Biomedical Engineering, University of Cincinnati, 45221 Cincinnati, Ohio, USA;(3) Partners Healthcare Center for Personalized Genetic Medicine, 02115 Boston, Massachusetts, USA;(4) Ear and Hearing Center, Cincinnati Children's Hospital Medical Center, 45229 Cincinnati, Ohio, USA;(5) Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, 02115 Massachusetts, USA;(6) Department of Otology and Laryngology, Harvard Medical School, 02115 Boston, Massachusetts, USA;(7) Department of Otolaryngology, Head and Neck Surgery, University of Cincinnati College of Medicine, 45221 Cincinnati, Ohio, USA;(8) Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, 02115 Boston, Massachusetts, USA |
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| Abstract: | Background Despite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified
clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix
resequencing microarrays capable of resequencing 13 genes mutated in SNHL (GJB2, GJB6, CDH23, KCNE1, KCNQ1, MYO7A, OTOF, PDS, MYO6, SLC26A5, TMIE, TMPRSS3, USH1C). We present results from hearing loss arrays developed in two different research facilities and highlight some of the approaches
we adopted to enhance the applicability of resequencing arrays in a clinical setting. |
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