We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Observation |

A Patient With DNMT1 Gene Mutation Presenting With Polyneuropathy, Hearing Loss, and Personality Changes

Dhara Kinariwala, BS1; Jeffrey Yu, MD2,3; Radhika Dhamija, MD4,5
[+] Author Affiliations
1School of Medicine, University of Virginia, Charlottesville
2Department of Otolaryngology, University of Virginia, Charlottesville
3currently at Department of Otolaryngology, University of Illinois at Chicago, Chicago
4Division of Pediatric Neurology, Department of Neurology, University of Virginia, Charlottesville
5Division of Genetics and Metabolism, Department of Pediatrics, University of Virginia, Charlottesville
JAMA Otolaryngol Head Neck Surg. 2016;142(2):193-194. doi:10.1001/jamaoto.2015.3137.
Text Size: A A A
Published online


This case report highlights the pattern of hearing loss in patients with hereditary sensory and autonomic neuropathie type 1E.

Hereditary sensorineural hearing loss can be syndromic or nonsyndromic. Genetic causes of hearing loss must be distinguished from acquired causes for purposes of genetic counseling. Next-generation sequencing (NGS) panels are now used widely in clinical settings to try to identify genetic causes of hearing loss.

Figures in this Article

First Page Preview

View Large
First page PDF preview


Place holder to copy figure label and caption
Figure 1.

A, The audiogram from 2011 demonstrates asymmetric mid- and high-frequency hearing loss in left ear (blue) worse than right ear (yellow). B, The audiogram from 2014 demonstrates worsening of right ear (yellow) hearing loss to match left ear (blue) hearing loss.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
Brain Magnetic Resonance Image Demonstrating Cerebellar Atrophy

The arrowhead indicates the cerebellar atropy.

Graphic Jump Location




Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.


Some tools below are only available to our subscribers or users with an online account.

0 Citations

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections