2024年12月19日 · The Hereditary Hearing Loss Homepage aims to give an up-to-date overview of the genetics of hereditary hearing impairment for researchers and clinicians working in the field. This website lists all known gene localizations and identifications for monogenic nonsyndromic hearing impairment.

The Hereditary Hearing Loss Homepage is maintained by: Daniel Walls, University of Iowa Hela Azaiez, University of Iowa Richard Smith, University of Iowa Molecular Otolaryngology and Renal Research Laboratories, University of Iowa. Please use the contact form to reach us.

It is characterized by isolated sclerosis of endochondral bone of the inner ear. Conductive hearing loss develops when otosclerotic foci invade the stapedio-vestibular joint (oval window) and interfere with free motion of the stapes. Sensorineural hearing loss may also be present.

This page includes syndromes that are common causes of hearing loss and syndromes that mimic nonsyndromic hearing loss. Alport Syndrome Branchio-Oto-Renal Syndrome

Note 1: DIAPH1 and MYH9 were subsequently shown to be associated with syndromic hearing loss. Note 2: Vona et al., 2023 calls into question the existence of the DFNA33 locus. Note 3: Mutations in DSPP cause dentinogenesis imperfecta associated with hearing impairment in …

Note 1: Otospondylomegaepiphyseal dysplasia (OSMED) is the same disorder as nonocular Stickler syndrome and Stickler syndrome type III (Spranger 1998; Pihlajamaa et al., 1998).

Usher syndrome is characterized by hearing impairment and retinitis pigmentosa. Usher syndrome can be classified into 3 different types on the basis of clinical findings. Clinical Classification of Usher Syndrome

When you use data from the Hereditary Hearing Loss Homepage in your publication, please cite it in the following format: Walls WD, Azaiez H, Smith RJH. Hereditary Hearing Loss Homepage. https://hereditaryhearingloss.org. (If you are referring to specific data, please add the month and year when you retrieved the data.)

Note 1: Certain MT-RNR1, MT-CO1, and MT-TS1 variants are associated with susceptibility to aminoglycoside otoxicity that causes permanent hearing loss (Usami and Nishio, 2004). Note 2: MT-CO1 variants at the border with MT-TS1 have been associated with nonsyndromic hearing loss ( Reid et al., 1994 ; Pandya et al., 1999 ).

Hereditary Hearing Loss Homepage. Frequently Asked Questions. How often is the HHL Homepage updated? We update the website as frequently as possible, typically once a month. Please see the updates log for the most recent updates. I discovered a new deafness gene! How can I have it added to the HHL Homepage?