This study plans to learn more about hearing loss using samples from a family trio (participant and both biological parents) and/or additional relatives. The goal of the study is to better understand the genetic variants that may underlie hearing loss.
This study aims to identify genes and variants that are related to sensorineural hearing loss (SNHL) in children, including Hispanic children from multiple recruitment sites and non-Hispanic children from Colorado who are diagnosed with severe-to-profound congenital SNHL. We will collect DNA samples from children and their biological parents and submit the DNA samples for sequencing, genotyping and/or methylation studies. These analyses will allow us to identify new genes, variants and gene regions that are associated with SNHL, particularly in Hispanic children.
1. Any child (up to 18 years old) diagnosed with severe-to-profound SNHL who can provide saliva samples for study. 2. Both biological parents and affected siblings (i.e. with hearing loss) of children with severe-to-profound SNHL satisfying criterion 1. 3. If there is a strong family history of hearing loss, multiple family members both affected and unaffected with hearing loss who will be informative for linkage analyses. 4. Age-, sex-, and ethnicity-matched children (matched per child recruited under criterion #1) who seek consult for other conditions at the same hospital but for non-ear conditions and do not have any history of hearing loss.
Regie Lyn Santos-Cortez, MD, PhD
Principal Investigator