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Choi, Youn Young,Woo, Min Hyung,Kim, Gi Beom,Song, Mi Kyoung,Lee, Sang Yoon,Bae, Eun Jung,Choi, Murim,Kim, Young-Sook Korean Society of Medical Genetics and Genomics 2018 대한의학유전학회지 Vol.15 No.1
Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.
Transcriptomic Signature of Non-Alcoholic Fatty Liver Disease
( Murim Choi ) 대한간학회 2020 춘·추계 학술대회 (KASL) Vol.2020 No.1
Nonalcoholic fatty liver disease (NAFLD) poses an impending clinical burden. Genome-wide association studies have revealed a limited contribution of genomic variants to the disease, requiring alternative but robust approaches to identify disease-associated variants and genes. We carried out a disease-specific expression quantitative trait loci (eQTL) screen to identify novel genetic factors that specifically act on NAFLD tissues on the basis of genotype. We recruited 125 Korean biopsy-proven NAFLD patients and healthy individuals without histological evidence of NAFLD and performed eQTL analysis. We then selected NAFLD-specific eQTLs that are active only under the diseased state. Among the 243 loci, AGXT2, encoding alanine-glyoxylate aminotransferase 2, displayed decreased expression in NAFLD patients homozygous for the non-reference allele of rs2291702, compared to no-NAFLD subjects with the same genotype. This change was replicated in an additional 165 individuals. Knockdown of AGXT2 in cell and mouse models exacerbated fibrosis, whereas overexpression ameliorated it. Reduced AGXT2 induced ER stress and cell death, eventually providing susceptibility to the disease in a genotype- dependent manner. Our overall approach will serve as an efficient tool for uncovering novel genetic factors that contribute to liver steatosis and fibrosis in patients with NAFLD.
Youn Young Choi,Min Hyung Woo,Gi Beom Kim,Mi Kyoung Song,Sang Yoon Lee,Eun Jung Bae,Murim Choi,Young-Sook Kim 대한의학유전학회 2018 대한의학유전학회지 Vol.15 No.1
Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy’s father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy’s brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations
Seo, Jieun,Choi, In-Ho,Lee, Je Sang,Yoo, Yongjin,Kim, Nayoung KD,Choi, Murim,Ko, Jung Min,Shin, Yong Beom Springer Science and Business Media LLC 2015 Journal of human genetics Vol.60 No.4
<P>Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, lethal type (OMIM#253290). Mutations in CHRNG, which encode the acetylcholine receptor gamma subunit, cause most cases of MPS. Here, we present three patients from two unrelated families showing multiple joint contractures in both the upper and lower limbs. High-arched palates with malocclusion, short neck and micrognathia were observed in all patients. Peripheral blood karyotypes were normal. Whole-exome sequencing analysis of the patients' genomes led to the discovery of identical missense (p.Pro143Arg) and frameshift deletion variants (p.Pro251fs*45) on CHRNG. These were rare cases of congenital arthrogryposis multiplex related to novel recessive CHRNG variants in two Korean kindred without apparent relatedness.</P>
Goh, Gerald,Choi, Murim Korea Genome Organization 2012 Genomics & informatics Vol.10 No.4
The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology.
Ultra-rare Disease and Genomics-Driven Precision Medicine
Lee, Sangmoon,Choi, Murim Korea Genome Organization 2016 Genomics & informatics Vol.14 No.2
Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options.
The role of de novo variants in complex and rare diseases pathogenesis
Rahman, Mahir,Lee, Woohyung,Choi, Murim Korean Society of Medical Genetics and Genomics 2015 대한의학유전학회지 Vol.12 No.1
De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.