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February 2016

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

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

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.

A woman in her 40s was initially referred to our neuromuscular clinic for polyneuropathy and hearing loss. On examination, she was inappropriately happy and indifferent. Her neurologic examination was notable for clinically significant sensory loss to pinprick, vibration, and position sensation distally in the upper and lower extremities and symmetric hyporeflexia. A nerve conduction study showed severe sensory neuropathy, with absent potentials in upper and lower extremity. Common causes of neuropathy, such as inflammatory, vitamin deficiencies, diabetes mellitus, alcoholism, and paraneoplastic and immune-mediated causes, were considered and excluded by appropriate studies.

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