Journal article
Usher's Syndrome Type IC: Clinical Studies and Fine-Mapping the Disease Locus
Annals of otology, rhinology & laryngology, Vol.106(2), pp.123-128
02/1997
DOI: 10.1177/000348949710600206
PMID: 9041816
Abstract
Usher's syndrome type I is a heterogeneous group of diseases characterized by severe to profound sensorineural hearing loss, absent vestibular function, and progressive pigmentary retinopathy. Other identifying clinical features have not been documented. In this study, we examined olfactory acuity, plasma levels of polyunsaturated fatty acids and sarcosine, and cilia ultrastructure in a homogeneous cohort of patients with Usher's syndrome type IC. The normal age-dependent decline in olfactory acuity was observed, and normal plasma levels of polyunsaturated fatty acids and sarcosine were found. However, the incidence of compound cilia in biopsies from the inferior turbinate was significantly higher than that reported in control populations. By reconstructing haplotypes in affected persons, D11S902 and D11S1310 were identified as flanking markers over an interval that contains a candidate gene, KCNC1. No mutations in the coding sequence of this gene could be demonstrated in affected persons.
Details
- Title: Subtitle
- Usher's Syndrome Type IC: Clinical Studies and Fine-Mapping the Disease Locus
- Creators
- Jacquie Marietta - University of IowaKatherine S Walters - Iowa City, IowaRobert Burgess - Iowa City, IowaKenneth C Moore - Iowa City, IowaLi Ni - Iowa City, IowaJ. Fielding Hejtmancik - Iowa City, IowaKunihiro Fukushima - Iowa City, IowaRichard J. H Smith - Iowa City, Iowa
- Resource Type
- Journal article
- Publication Details
- Annals of otology, rhinology & laryngology, Vol.106(2), pp.123-128
- Publisher
- SAGE Publications
- DOI
- 10.1177/000348949710600206
- PMID
- 9041816
- ISSN
- 0003-4894
- eISSN
- 1943-572X
- Language
- English
- Date published
- 02/1997
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984256933402771
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