• Journal of Korean Society of Occupational and Environmental Hygiene
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• v.31 no.2
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• pp.111-118
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• 2021

Objectives: The necessity of samples for analysis requested by working environment monitoring institutes (WMIs) has grown recently. The collection of samples of a few chemical substances requested by WMIs is allowed under the current occupational safety and health act in Korea, leading to an expansion of samples for analysis requested by institutes (SRIs). The objective of this study was to identify the number of institutes for analyzing requested samples (IARS), SRIs, and their participation in a non-mandatory proficiency test. Methods: Questionnaires were completed by all WMIs. The collected information was quantity of analysis equipment, sorting of chemicals from SRIs, and the number of SRIs. This was compared in terms of the participation in the non-mandatory proficiency test. Results: All WMIs in Korea responded to the survey, establishing a 100% response rate. There were 52 (29%) IARS among the 179 WMIs in Korea. The total number of samples of acid for ion chromatograph (IC) analysis requested by WMIs was 21,165, which is the most. Even the number of IARS for crystalline silicon oxide was less than other top-five IARS. The total amount of samples was 13,863, which was the second most. The calculated participation score for IARS was significantly higher than other WMIs (p<0.001). According to participation in the non-mandatory proficiency test by type of substance, such as crystalline silicon oxide and formaldehyde among IARS, the number of SRIs from those IARS was significantly higher than IARS that did not participate in the proficiency test (p<0.05). Conclusions: IARS had a high frequency of participation in the non-mandatory proficiency test and the number of SRIs at IARS participating in the proficiency test was higher among IARS. With the revision of the occupational health and safety act in Korea, the number of IARS participating in the non-mandatory proficiency test might increase.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.55-61
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• 2019

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.