A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21

• Published in: Journal of medical genetics Vol. 41; no. 11; pp. 872 - 876
• Main Authors: Kim, T B, Isaacson, B, Sivakumaran, T A, Starr, A, Keats, B J B, Lesperance, M M
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.11.2004; BMJ Publishing Group LTD; BMJ Group
• Subjects: ABR; Adolescent; Adult; Age; Age of Onset; auditory brainstem responses; auditory neuropathy; AUNA1; Center for Inherited Disease Research; Child; Chromosome Mapping; Chromosomes, Human, Pair 13; CIDR; CMs; cochlear microphonics; Colleges & universities; ENU; Families & family life; Female; gene localisation; Genes; genetic; Genomes; Haplotypes; Hearing loss; Hearing Loss - epidemiology; Hearing Loss - genetics; Hearing protection; Humans; Letter to JMG; Lod Score; Male; Middle Aged; Mutation; N-ethyl-N-nitrosurea; OAEs; OHC; otoacoustic emissions; outer hair cell; sensorineural hearing loss; SNHL; Wolfram syndrome; United States > US
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2004.020628

The Institutional Review Boards of the University of Michigan Medical School, Louisiana State University Health Sciences Center, and the University of California at Irvine approved the study, and informed consent was obtained from all subjects. Numerous candidate genes of interest map to the AUNA1 interval (UCSC Genome Browser: http://genome.ucsc.edu ) including diaphanous homolog 3 (DIAPH3), several protocadherins (PCDH9 (MIM 603581), PCDH8 (MIM 603580), PCDH17, and PCHD20), and genes implicated in protein and/or ion transport (WD repeat and FYVE domain containing 2 (WDFY2) and potassium channel regulator gene, KCNRG (MIM 607947)).