Disease Gene Discoveries
Gipc3 - Identification of genetic variants in GIPC3 that cause sensorineural hearing loss and audiogenic seizures in human and mouse.
Nature Communications 2: 201 (2011)
Cdh23 - Identification of a novel cadherin (Cdh23, otocadherin) linked to mutations in Usher syndrome type 1D, non-syndromic deafness and the waltzer mouse; identification of a single nucleotide variant underlying genetic modification and polygenic hearing loss in mice.
Nature Genetics 35, 21-23 (2003)
Nature Genetics 27, 103-107 (2001)
Atp2b2 - Identification of mutations in the Atp2b2 gene, encoding a plasma membrane bound Ca2+ ATPAse, localizing to the hair cell stereocilia causing hearing loss, vestibular dysfunction, and ataxia.
Nature Genetics 19, 390-394 (1998)
Tub - Identification of mutations in the novel tubby gene underlying sensorineural hearing loss, retinal degeneration, and adult-onset obesity.
Trpml3 - Identification of gain-of-function mutations in the transient receptor potential channel Trpml3 (Mcoln3) causing hearing loss, vestibular deficits, pigmentation anomalies, and embryonic lethality in the Varitint-waddler mouse.
Proc. Natl. Acad. Sci. USA 99, 14994-14999 (2002)
Sobp - Identification of mutations in SOBP/JXC1 that cause mental disabilities (MRARS syndrome) in humans and hearing loss in mice.
Am. J. Hum. Genet. 87, 694-700 (2010)
Journal of Neuroscience 28, 6633-6641 (2008)
Rpl38 - Identification of a large-scale deletion of the ribosomal protein Rpl38 that causes conductive hearing loss and otitis media in the Tail-short mouse.
J. Biol. Chem. 286, 3079-3093 (2011)
Novel Susceptibility Loci of Sensorineural Hearing Loss:
ahl5 and ahl6 Hearing Research 212, 128-139 (2005)
Snhl1 Plos One 5 (7): e11459 (2010)
Snhl2, -3 and -4 Hearing Research 275, 150-159 (2011)
Hfhl1 and Hfhl2 J. Assoc. Res. Otolaryngol. 12, 617-631 (2011)
Hfhl3 BMC Genetics 13:32 (2012)