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논문 기본 정보

자료유형
학술저널
저자정보
Lee, Jin Sook (Department of Pediatrics, Gachon University Gil Medical Center, Gachon University College of Medicine) Kim, Man Jin (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) Kim, Soo Yeon (Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine) Lim, Byung Chan (Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine) Kim, Ki Joong (Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine) Choi, Murim (Department of Biomedical Sciences, Seoul National University College of Medicine) Seong, Moon-Woo (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) Chae, Jong-Hee (Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University)
저널정보
대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제16권 제2호
발행연도
2019.1
수록면
55 - 61 (7page)

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Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.
#Amino acyl-tRNA synthetases #Cataract #IARS2 #Leigh disease

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참고문헌 (14)

참고문헌 신청
Boczonadi V / 2014 / Mitochondria: impaired mitochondrial translation in human disease / Int J Biochem Cell Biol 48:77~84 google schola Konovalova S / 2013 / Mitochondrial aminoacyl-tRNA synthetases in human disease / Mol Genet Metab 108:206~211 google schola Diodato D / 2014 / The mitochondrial aminoacyl tRNA synthetases : genes and syndromes / Int J Cell Biol 2014:787956 google schola Yao P / 2013 / Aminoacyl-tRNA synthetases in medicine and disease / EMBO Mol Med 5:332~343 google schola Meyer-Schuman R / 2017 / Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease / Hum Mol Genet 26:R114~R127 google schola

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