Clinical findings in obligate carriers of type I Usher syndrome

American Journal of Medical Genetics
M WagenaarC W Cremers

Abstract

Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal pure-tone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electro-oculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities.

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Citations

Aug 28, 1998·International Journal of Pediatric Otorhinolaryngology·S MarlinC Petit
Jun 4, 1998·Journal of Medical Genetics·C EspinósM Beneyto
Feb 1, 2006·Acta Ophthalmologica Scandinavica·Rutger F PlantingaAugust F Deutman
Dec 12, 2019·Frontiers in Neuroscience·Kaitlyn R CalabroShannon E Boye
Nov 7, 2013·Molecular Biology Reports·Salma Ben-SalemLihadh Al-Gazali

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