This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citing articles on HighWire  • Citing articles on Web of Science (10)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Hearing Loss/ Deafness  • Genetics  • Genetic Counseling/ Testing/ Therapy  • Alert me on articles by topic  Social Bookmarking   What's this?

Andrew J. Griffith, MD, PhD; Stephen S. Gebarski, MD; Neil T. Shepard, PhD; Paul R. Kileny, PhD

Arch Otolaryngol Head Neck Surg. 2000;126:891-894.

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.

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.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebrafish
Busch-Nentwich et al.
Development 2004;131:943-951.
ABSTRACT | FULL TEXT  

Auditory Dysfunction in Stickler Syndrome
Szymko-Bennett et al.
Arch Otolaryngol Head Neck Surg 2001;127:1061-1068.
ABSTRACT | FULL TEXT