Study

SPATC1L variants associated with age-related and hereditary hearing loss

Study ID Alternative Stable ID Type
EGAS00001003047 Other

Study Description

Next-Generation Sequencing techniques (i.e, targeted re-sequencing and whole exome sequencing) have been employed for the study of two Italian patients affected by age-related hearing loss and of an Italian family affected by hereditary hearing loss. Data analysis led to the identification of three variants in SPATC1L, associated with the clinical phenotype.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001004147 The dataset contains three BAM files that include SPATC1L variants identified in Italian patients affected by hearing loss (both hereditary and age-related hearing loss). Data have been produced by whole exome sequencing and targeted re-sequencing, using Ion Proton and Ion Torrent PGM platforms respectively. Ion Torrent PGM Ion Torrent Proton 3

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Publications

Publications Citations
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.
Eur J Hum Genet 27:2019 70-79
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