Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.

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.

• Authors: J Marietta, K S Walters, R Burgess, L Ni, K Fukushima, K C Moore, J F Hejtmancik, R J Smith
• Journal: The Annals of otology, rhinology, and laryngology (Ann Otol Rhinol Laryngol) Vol. 106 Issue 2 Pg. 123-8 (Feb 1997) ISSN: 0003-4894 [Print] United States
• PMID: 9041816 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Fatty Acids, Unsaturated
• Sarcosine

Topics

• Adolescent
• Adult
• Aged
• Base Sequence
• Child
• Chromosome Aberrations
• Chromosome Disorders
• Cilia (ultrastructure)
• Fatty Acids, Unsaturated (blood)
• Haplotypes
• Hearing Loss, Sensorineural (complications)
• Humans
• Middle Aged
• Molecular Sequence Data
• Phenotype
• Retinitis Pigmentosa (complications)
• Sarcosine (blood)
• Smell
• Syndrome
• Vision Disorders (complications)