KARS1 and microcephaly: To date, sixteen mutations in the KARS1 gene have been associated with autosomal recessive Charcot–Marie–Tooth type CMTRIB [3], hearing loss type DFNB89 [4], and mitochondrial encephalohepatopathy (MEH) featuring neurodevelopmental disorders with microcephaly, white matter changes, and cardiac and hepatic failure in 26 patients.