Article
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Human genetics - 1 Apr 2022
Smits Jeroen J, de Bruijn Suzanne E, Lanting Cornelis P, Oostrik Jaap, O'Gorman Luke, Mantere Tuomo, Cremers Frans P M, Roosing Susanne, Yntema Helger G, de Vrieze Erik, Derks Ronny, Hoischen Alexander, Pegge Sjoert A H, Neveling Kornelia, Pennings Ronald J E, Kremer Hannie
Abstract excerpt
Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct (EVA). SLC26A4 is the second most frequently mutated gene in arHL. Despite the strong genotype-phenotype correlation, a significant part of cases remains genetically unresolved. In this study, we investigated a cohort of 28 Dutch index cases diagnosed with HL...
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