Unique SLC26A4 Mutation Spectrum in Mongolian Patients with Enlarged Vestibular Aqueduct: A Whole-Exome Sequencing Study
Jargalkhuu Erdenechuluun, Bayasgalan Gombojav, Tserendulam Batsaikan, Yue-Sheng Lu, Narandalai Danshiitsoodol, Zaya Makhbal, Maralgoo Jargalmaa, Tuvshinbayar Jargalkhuu, Ho-Peng Hsu, Pei‐Hsuan Lin, Hung-Ju Su, Chien‐Hsing Lin, Chuan‐Jen Hsu, Pei‐Lung Chen, Cheng‐Yu Tsai, Chen‐Chi Wu
This study identifies biallelic SLC26A4 pathogenic variants in all Mongolian EVA patients, revealing a unique mutation spectrum across East, North, and Southwest Asian populations.
medRxiv · Feb 3, 2025 · PreprintGenetic & Genomic Medicine