Study

Whole Exome Sequencing of One Nuclear Family with Non-syndromic Sensorineural Hearing Loss

Study ID Alternative Stable ID Type
phs000969 Parent-Offspring

Study Description

Our goal is to find genes responsible for non-syndromic sensorineural hearing loss. Blood samples were collected from the JS6 family affected with hearing loss. The family is of Caribbean Hispanic ethnicity. Family JS6 consisted of two deaf siblings, JS6.001 (Male) and JS6.002 (Female) and healthy parents, JS6.100 (mother) and JS6.200 (father). The siblings had no other medical findings. Audiometry tests and Rinne and Weber tuning fork tests identified sensorineural hearing loss in the two siblings. We performed whole exome sequencing of the four individuals and identified a recessive mutation, p.(Arg186Trp), in the CIB2 gene in the two affected siblings. Both parents were unaffected carriers.

Archive Link Archive Accession
dbGaP phs000969

Who archives the data?

There are no publications available