IN 1992, León et al1 mapped the first nonsyndromic deafness locus to chromosome 5q31 in a large kindred from Costa Rica, segregating autosomal dominant postlingual deafness that begins as a low-frequency loss at about age 10 years and progresses to involve all frequencies by age 30 years. Five years later, Lynch et al2 identified a protein-truncating mutation in the causative gene HDIA1, the human homologue of the Drosophila gene diaphanous. As of September 2002, 41 dominant (DFNA + integer), 33 recessive (DFNB + integer) and 8 X-linked (DFN + integer) deafness loci have been mapped and 29 different deafness-related genes have been cloned.3
Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more
Subscribe for full-text access to content from 1998 forward and a host of useful features
Activate your current subscription (AMA members and current subscribers)
Purchase Online Access to this article for 24 hours
Selection of audioprofiles associated with autosomal dominant nonsyndromic loci showing age in decade steps. Asterisk indicates that the audioprofile has been obtained by averaging threshold data derived from several families; other audioprofiles pertain to a single family. (For original data sources and method descriptions, see Cremers and Smith,8 Pennings et al,9 and Huygen et al.10)
Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature
Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal
Thank you for submitting a comment on this article. It will be reviewed by JAMA Otolaryngology–Head & Neck Surgery editors. You will be notified when your comment has been published. Comments should not exceed 500 words of text and 10 references.
Do not submit personal medical questions or information that could identify a specific patient, questions about a particular case, or general inquiries to an author. Only content that has not been published, posted, or submitted elsewhere should be submitted. By submitting this Comment, you and any coauthors transfer copyright to the journal if your Comment is posted.
* = Required Field
Disclosure of Any Conflicts of Interest*
Indicate all relevant conflicts of interest of each author below, including all relevant financial interests, activities, and relationships within the past 3 years including, but not limited to, employment, affiliation, grants or funding, consultancies, honoraria or payment, speakers’ bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued. If all authors have none, check "No potential conflicts or relevant financial interests" in the box below. Please also indicate any funding received in support of this work. The information will be posted with your response.
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 5
Customize your page view by dragging & repositioning the boxes below.
More Listings atJAMACareerCenter.com >
Users' Guides to the Medical Literature
Sequencing the human genomeidentifying the entire sequence of base pairs in the 25 ...
All results at
and access these and other features:
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.