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.

         Nature 380, 534-538 (1996)

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)

                             Journal’s press release