Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

Autor: Truong, Brittany T., Yarza, Talitha K.L., Bootpetch Roberts, Tori, Roberts, Susannah, Xu, Jonathan, Steritz, Matthew J., Tobias‐Grasso, Celina A.M., Azamian, Mahshid, Lalani, Seema R., Mohlke, Karen L., Lee, Nanette R., Cutiongco‐de la Paz, Eva Maria, Reyes‐Quintos, Maria Rina T., Santos‐Cortez, Regie Lyn P., Chiong, Charlotte M.
Předmět:
Zdroj: Clinical Genetics; May2019, Vol. 95 Issue 5, p634-636, 3p, 1 Chart
Abstrakt: The article presents a study on seven novel hearing loss variants in Filipino cochlear implantees, which suggested that the allelic spectrum for non-/syndromic hearing impairment in Filipinos is unique. Topics discussed include reason for excluding screened exome variants, pathogenic and likely pathogenic variants in cochlear implantees identified in the study, and finding on patients with pathogenic variants.
Databáze: Complementary Index