Genetic Variants Associated with Suspected Neonatal Hypoxic Ischaemic Encephalopathy: A Study in a South African Context.

• Tác giả: Carina Babbo, Daynia E Ballot, Melantha Coetzee, Kevin Durant, Caroline J Foden, Alan R Horn, Fourie Joubert, Gugu Kali, Thumbiko Kalua, Khomotso Masemola, Juanita Mellet, Firdose L Nakwa, Michael S Pepper, Shakti Pillay, Jeanne van Rensburg, Sithembiso C Velaphi
• Ngôn ngữ: eng
• Ký hiệu phân loại: 152.1 Sensory perception
• Thông tin xuất bản: Switzerland : International journal of molecular sciences , 2025
• Bộ sưu tập: NCBI
• ID: 705750

Tóm tắt

Neonatal encephalopathy suspected to be due to hypoxic ischaemic encephalopathy (NESHIE) carries the risk of death or severe disability (cognitive defects and cerebral palsy). Previous genetic studies on NESHIE have predominantly focused on exomes or targeted genes. The objective of this study was to identify genetic variants associated with moderate-severe NESHIE through whole-genome, unbiased analysis. Variant filtering and prioritization were performed, followed by association testing both on a case-control basis and to compare the grades of severity and/or progression. Association testing on neonates with NESHIE (N = 172) and ancestry-matched controls (N = 288) produced 71 significant genetic variants (false discovery rate corrected