Early-Onset Sensorineural Hearing Loss and Late-Onset Neurologic Complaints Caused by a Mitochondrial Mutation at Position 7472 | Genetics and Genomics | JAMA Otolaryngology–Head & Neck Surgery | JAMA Network
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Original Article
August 1998

Early-Onset Sensorineural Hearing Loss and Late-Onset Neurologic Complaints Caused by a Mitochondrial Mutation at Position 7472

Author Affiliations

From the Departments of Otorhinolaryngology (Drs Ensink, Marres, Huygen, and Cremers) and Neurology (Drs Padberg and ter Laak), University Hospital Nijmegen, Nijmegen, the Netherlands; and the Department of Medical Genetics, University of Antwerp, Antwerp, Belgium (Drs van Camp and Willems, and Ms Verhoeven).

Arch Otolaryngol Head Neck Surg. 1998;124(8):886-891. doi:10.1001/archotol.124.8.886
Abstract

Objectives  To detect a mitochondrial mutation responsible for maternally transmitted hearing loss with late-onset neurologic features in a 3-generation Dutch family, and to describe the hearing loss, associated symptoms, and vestibular dysfunction.

Patients and Methods  All maternally related family members (n=69) were investigated using standard audiometry. In a selected group, vestibulo-ocular examinations and additional neurologic and ophthalmologic examinations were performed. Twenty milliliters of venous blood was taken from all participants for genetic studies.

Setting  University medical center.

Results  All maternally related individuals carried an extra C at position 7472 of the mitochondrial genome. Hearing loss was the only symptom or presenting symptom in most family members and most pronounced at higher frequencies. Hearing loss at lower frequencies was demonstrated in individuals 10 years and older. Most patients had vestibular hyperreactivity and were susceptible to motion sickness, suggesting vestibulocerebellar dysfunction. Neurologic complaints were infrequent and presented by older individuals; however, numerous enlarged mitochondria were found in a muscle biopsy specimen of an individual with hearing impairment but without neurologic symptoms.

Conclusions  Respiratory chain dysfunction should be considered as a possible cause of progressive sensorineural hearing loss. More research into the causes of high-frequency impairment should be considered, especially when sensorineural hearing loss, syndromal or nonsyndromal, is exclusively maternally transmitted. Maternal transmission of hearing impairment can also be valuable in the diagnosis of unclear neurologic syndromes.

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