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: So Young Kim, Ah Reum Kim, Nayoung K. D. Kim, Chung Lee, Jin Hee Han, Min Young Kim, Eun ‐Hee Jeon, Woong‐Yang Park, Rahul Mittal, Denise Yan, Xue Zhong Liu, Byung Yoon Choi Tags: RESEARCH ARTICLE Source Type: research