KARS1-Related Infantile-Onset Progressive Leukoencephalopathy With or Without Deafness: A Novel Variant and Phenotypic Expansion

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03 Nov 2026 0 comments

Biallelic variants in the KARS1 gene, encoding lysyl-tRNA synthetase, are responsible for autosomal recessive disorders such as infantile-onset progressive leukoencephalopathy with or without deafness (LEPID; OMIM #619147) and nonsyndromic hearing loss (DFNB89). Common features of LEPID include sensorineural hearing loss, developmental delay, and leukoencephalopathy, but dysmorphic facial features and cardiac anomalies are not commonly reported. This study presents the first documented LEPID...