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Clinical Note
July 2000

Audiovestibular Phenotype Associated With a COL11A1 Mutation in Marshall Syndrome

Author Affiliations

From the Departments of Otolaryngology–Head and Neck Surgery (Drs Griffith, Shepard, and Kileny) and Radiology (Dr Gebarski), University of Michigan, Ann Arbor. Dr Griffith is now at the National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Md, and Dr Shepard is at the University of Pennsylvania, Philadelphia.

Arch Otolaryngol Head Neck Surg. 2000;126(7):891-894. doi:10.1001/archotol.126.7.891

Background  Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, myopia, and cataracts, and is associated with splicing mutations in COL11A1.

Objective  To determine the auditory and vestibular phenotypes associated with a COL11A1 splicing.

Design  Clinical otolaryngologic, audiologic, vestibular, and radiologic evaluations of the auditory and vestibular systems.

Subjects  Three affected individuals from a family cosegregating Marshall syndrome and a COL11A1 splice site mutation.

Results  The study subjects have progressive sensorineural hearing loss that is predominantly cochlear in origin and asymptomatic dysfunction of the central and peripheral vestibular systems. Computed tomography detected no malformations of temporal bone structures.

Conclusions  The observed auditory and vestibular abnormalities are not caused by defective morphogenesis of the osseous labyrinth, but by more direct effects of the COL11A1 mutation on the membranous labyrinth and the central nervous system. The onset and degree of hearing loss associated with COL11A1 mutations are useful clinical features to differentiate Marshall syndrome from the phenotypically similar Stickler syndrome.

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