Functional Characterization of a Novel Loss ‐of‐Function Mutation of PRPS1 related to Early‐Onset Progressive Nonsyndromic Hearing Loss in Koreans (DFNX1): Potential Implications on Future Therapeutic Intervention

ConclusionsDFNX1 turned out to account for about 2.4% (1/42) of moderate SNHL in a Korean pediatric population. Confirmation of PRPS1 activity deficiency and an audiologic phenotype that initially begins in a milder form of SNHL, as in our family, should indicate the necessity for rigorous genetic screening as early as possible.
Source: The Journal of Gene Medicine - Category: Genetics & Stem Cells Authors: Tags: RESEARCH ARTICLE Source Type: research