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1.
Yonsei Medical Journal ; : 224-230, 2021.
Article in English | WPRIM | ID: wpr-875615

ABSTRACT

Purpose@#Nontuberculous mycobacteria (NTM) is ubiquitous in the environment, but NTM lung disease (NTM-LD) is uncommon. Since exposure to NTM is inevitable, patients who develop NTM-LD are likely to have specific susceptibility factors, such as primary ciliary dyskinesia (PCD). PCD is a genetically heterogeneous disorder of motile cilia and is characterized by chronic respiratory tract infection, organ laterality defect, and infertility. In this study, we performed whole exome sequencing (WES) and investigated the genetic characteristics of adult NTM patients with suspected PCD. @*Materials and Methods@#WES was performed in 13 NTM-LD patients who were suspected of having PCD by clinical symptoms and/or ultrastructural ciliary defect observed by transmission electron microscopy. A total of 45 PCD-causing genes, 23 PCDcandidate genes, and 990 ciliome genes were analyzed. @*Results@#Four patients were found to have biallelic loss-of-function (LoF) variants in the following PCD-causing genes: CCDC114, DNAH5, HYDIN, and NME5. In four other patients, only one LoF variant was identified, while the remaining five patients did not have any LoF variants. @*Conclusion@#At least 30.8% of NTM-LD patients who were suspected of having PCD had biallelic LoF variants, and an additional 30.8% of patients had one LoF variant. Therefore, PCD should be considered in patients with NTM-LD with symptoms or signs suspicious of PCD.

2.
Article in English | WPRIM | ID: wpr-762478

ABSTRACT

No abstract available.


Subject(s)
Breast Neoplasms , Breast , Genetic Testing
3.
Article in English | WPRIM | ID: wpr-785340

ABSTRACT

PURPOSE: While there is an urgent need for diagnosis and therapeutic intervention in patients with primary immunodeficiency diseases (PIDs), current genetic tests have drawbacks. We retrospectively reviewed the usefulness of flow cytometry (FCM) as a quick tool for immunophenotyping and functional assays in patients suspected to have PIDs at a single tertiary care institute.METHODS: Between January 2001 and June 2018, patients suspected of having PIDs were subjected to FCM tests, including lymphocyte subset analysis, detection of surface- or intracellular-target proteins, and functional analysis of immune cells, at Samsung Medical Center, Seoul, Korea. The genetic diagnosis was performed using Sanger or diagnostic exome sequencing.RESULTS: Of 60 patients diagnosed with definite or probable PID according to the European Society of Immune Deficiencies criteria, 24 patients were provided with useful information about immunological dysfunction after initial FCM testing. In 10 patients, the PID diagnosis was based on abnormal findings in FCM testing without genetic tests. The FCM findings provided strong evidence for the diagnosis of severe combined immunodeficiency (n = 6), X-linked chronic granulomatous diseases (CGD) (n = 6), leukocyte adhesion deficiency type 1 (n = 3), X-linked agammaglobulinemia (n = 11), autoimmune lymphoproliferative syndrome-FASLG (n = 1), and familial hemophagocytic lymphohistiocytosis type 2 (n = 1), and probable evidence for autosomal recessive-CGD (n = 2), autosomal dominant-hyper-immunoglobulin E (IgE)-syndrome (n = 1), and STAT1 gain-of-function mutation (n = 1). In PIDs derived from PIK3CD (n = 2), LRBA (n = 2), and CTLA4 mutations (n = 3), the FCM test provided useful evidence of immune abnormalities and a tool for treatment monitoring.CONCLUSIONS: The initial application of FCM, particularly with known protein targets on immune cells, would facilitate the timely diagnosis of PIDs and thus would support clinical decisions and improve the clinical outcome.


Subject(s)
Agammaglobulinemia , Diagnosis , Exome , Flow Cytometry , Genetic Testing , Granulomatous Disease, Chronic , Humans , Immunophenotyping , Korea , Leukocytes , Lymphocyte Subsets , Lymphohistiocytosis, Hemophagocytic , Phenotype , Retrospective Studies , Seoul , Severe Combined Immunodeficiency , Tertiary Healthcare
4.
Article in English | WPRIM | ID: wpr-811096

ABSTRACT

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency in various populations has become important for developing screening programs for this disease. In total, 1,581 anonymous DNA samples from an umbilical cord blood bank were tested for SMN1 and SMN2 gene copies using a multiplex ligation-dependent probe amplification assay. Twenty-nine of the 1,581 newborns [1.83%; 95% confidence interval (CI), 1.25–2.66%] were SMA carriers with one copy of SMN1, and no homozygous SMN1 deletion was detected. The carrier frequency in this population was estimated to be 1,834 per 100,000 (95% CI, 1,254–2,659) or 1 in 55 (95% CI, 1/79–1/38). Our data indicate that SMA carriers are not uncommon in the Korean population and may serve as a reference for designing a population screening program in Korea.

5.
Article in English | WPRIM | ID: wpr-762426

ABSTRACT

This erratum is being published to revise the website address of the Korean Reference Genome Database (KRGDB) and correct two typographical errors in the article.

6.
Article in Korean | WPRIM | ID: wpr-762189

ABSTRACT

Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. FLNA mutations affect cytoskeletal regulatory processes and cellular migrating abnormalities that result in periventricular heterotopia. A 5-month-old girl was hospitalized because of breathing difficulty and was diagnosed as having periventricular heterotopia with laryngomalacia, cricopharyngeal incoordination, pulmonary hypertension, and chronic lung disease. A genetic test was performed to find the cause of periventricular heterotopia, and FLNA gene mutation (c.5998+1G>A) was confirmed for the first time in Korea. After discharge, she developed respiratory failure due to a viral infection at 8 months of her age. In spite of management with mechanical ventilation, she died of pneumothorax and pulmonary hemorrhage. Herein, we report a case of FLNA gene mutation who presented with periventricular nodular heterotopia with respiratory insufficiency.


Subject(s)
Actin Cytoskeleton , Arm , Ataxia , Cytoplasm , Cytoskeleton , Female , Filamins , Hemorrhage , Humans , Hypertension, Pulmonary , Infant , Korea , Laryngomalacia , Lung Diseases , Periventricular Nodular Heterotopia , Pneumothorax , Respiration , Respiration, Artificial , Respiratory Insufficiency , X Chromosome
7.
Laboratory Medicine Online ; : 166-170, 2019.
Article in English | WPRIM | ID: wpr-760499

ABSTRACT

Mycobacterium shimoidei is a nontuberculous mycobacterium (NTM), and is rarely reported as a pathogen causing the NTM pulmonary disease. We describe here the case of a 52-year-old male with symptoms such as chronic cough and a history of pulmonary tuberculosis. Radiologic studies revealed a cavitary lesion in the left upper lobe of his lung. Sputum culture was positive for NTM, which was later identified as M. shimoidei using 16S rRNA and hsp65 sequencing. The patient's symptoms, radiologic evidence, and positive culture results together substantiate that this is the first case of M. shimoidei pulmonary disease from Korea.


Subject(s)
Cough , Humans , Korea , Lung , Lung Diseases , Male , Middle Aged , Mycobacterium , Nontuberculous Mycobacteria , Sputum , Tuberculosis, Pulmonary
8.
Article in English | WPRIM | ID: wpr-760484

ABSTRACT

Actinotignum schaalii is an emerging uropathogen; however, routine culture protocols and usual phenotypic methods do not allow for easy detection and identification. Herein, we report the first Korean case of urinary tract infection caused by A. schaalii in a 79-year-old patient with prostate cancer. A gram-positive rod bacterium was isolated from the patient's urine after 2 days of culture and identified as A. schaalii using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry and DNA target sequencing.


Subject(s)
Aged , DNA , Humans , Mass Spectrometry , Prostatic Neoplasms , Urinary Tract Infections , Urinary Tract
9.
Article in English | WPRIM | ID: wpr-760199

ABSTRACT

Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and autosomal dominant ATS. About 80% of patients with ATS have X-linked ATS, which is caused by mutations in the type IV collagen α5 chain gene, COL4A5. Although an 80% mutation detection rate is observed in men with X-linked ATS, some difficulties do exist in the genetic diagnosis of ATS. Most mutations are point mutations without hotspots in the COL4A3, COL4A4, and COL4A5 genes. Further, there are insufficient data on the detection of COL4A3 and COL4A4 mutations for their comparison between patients with autosomal recessive or dominant ATS. Therefore, diagnosis of ATS in female patients with no apparent family history can be challenging. Therefore, in this study, we used whole-exome sequencing (WES) to identify mutations in type IV collagen in 2 girls with glomerular basement membrane structural changes suspected to be associated with ATS; these patients had no relevant family history. Our results revealed de novo c.4688G>A (p.Arg1563Gln) and c.2714G>A (p.Gly905Asp) mutations in COL4A5. Therefore, we suggest that WES is an effective approach to obtain genetic information in ATS, particularly in female patients without a relevant family history, to detect unexpected DNA variations.


Subject(s)
Child , Collagen Type IV , Diagnosis , DNA , Exome , Female , Glomerular Basement Membrane , Hematuria , Humans , Kidney Failure, Chronic , Korea , Male , Nephritis , Nephritis, Hereditary , Point Mutation
10.
Article in Korean | WPRIM | ID: wpr-738617

ABSTRACT

PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased left visual acuity and corneal opacity. She had undergone several surgeries previously due to the presence of basosquamous carcinoma in the left lower eyelid, neurofibroma, and malignant melanoma of the facial skin. The patient showed repeated corneal surface problems, with a suspicious dendritic lesion; however, antiviral therapy was ineffective, and herpes simplex virus polymerase chain reaction results were negative. Despite regular follow-ups, the patient showed neovascularization around the corneal limbus and an irregular corneal surface. We performed corneal debridement with autologous serum eye drops for treatment. The patient's visual acuity and corneal surface improved after the procedure. The impression cytology result was corneal dysplasia. In whole exome sequencing, two pathogenic variants and one likely pathogenic variant of the POLH gene were detected. CONCLUSIONS: This is the first genetically identified xeroderma pigmentosum case with ophthalmological lesions of the eyelid and cornea in Korea. Debridement of the irregular corneal surface and autologous serum eye drop administration in xeroderma pigmentosum could be helpful for improving visual acuity.


Subject(s)
Adult , Carcinoma, Basosquamous , Cornea , Corneal Opacity , Debridement , Diagnosis , Exome , Eyelids , Female , Follow-Up Studies , Humans , Ichthyosis , Korea , Limbus Corneae , Melanoma , Neurofibroma , Ophthalmic Solutions , Polymerase Chain Reaction , Simplexvirus , Skin , Visual Acuity , Xeroderma Pigmentosum
14.
Article in English | WPRIM | ID: wpr-764906

ABSTRACT

This study investigated the changes in the major etiologic organisms and clinical phenotypes of nontuberculous mycobacterial lung disease (NTM-LD) over a recent 15-year period in Korea. The increase of number of patients with NTM-LD was primarily due to an increase of Mycobacterium avium complex (MAC) lung disease (LD). Among MAC cases, the proportion of M. avium increased compared with M. intracellulare, whereas the incidence of M. abscessus complex and M. kansasii LD remained relatively stable. The proportion of cases of the nodular bronchiectatic form increased compared with the fibrocavitary form of NTM-LD.


Subject(s)
Epidemiology , Humans , Incidence , Korea , Lung Diseases , Lung , Mycobacterium avium Complex , Mycobacterium kansasii , Nontuberculous Mycobacteria , Phenotype , Republic of Korea , Tertiary Care Centers
19.
Yonsei Medical Journal ; : 1004-1007, 2018.
Article in English | WPRIM | ID: wpr-717927

ABSTRACT

Bronchiectasis is a chronic disease characterized by airway infection and inflammation, leading to permanent dilation of the bronchi. Evaluation of underlying etiology is important in managing young bronchiectasis patients with recurrent infections caused by unusual pathogens. The signal transducer and activator of transcription 1 (STAT1) protein plays a key role in STAT signaling and immune system regulation. Heterozygotes for gain-of-function (GOF) alleles of the STAT1 gene usually display autosomal dominant chronic mucocutaneous candidiasis (CMC) and a wide range of clinical features, such as bronchiectasis. Here, we report on a patient with CMC and bronchiectasis with various types of infections who carried a pathogenic variant of the STAT1 gene. The 24-year-old female presented with recurrent respiratory bacterial and nontuberculous mycobacterial infections complicated by severe bronchiectasis and CMC. Whole-exome sequencing revealed a c.800C>T (p.Ala267Val) heterozygous mutation in the STAT1 gene. Further analysis by Sanger sequencing of STAT1 from the patient and her parents revealed the patient had a de novo occurrence of the variant. This is the first report of a Korean patient with a GOF pathogenic variant in STAT1. Physicians should be aware of the existence of this variant as a genetic factor associated with CMC and bronchiectasis complicated by recurrent infection.


Subject(s)
Alleles , Bronchi , Bronchiectasis , Candidiasis, Chronic Mucocutaneous , Chronic Disease , Female , Heterozygote , Humans , Immune System , Inflammation , Korea , Nontuberculous Mycobacteria , Parents , Respiratory Tract Infections , STAT1 Transcription Factor , Young Adult
20.
Yonsei Medical Journal ; : 798-800, 2018.
Article in English | WPRIM | ID: wpr-716422

ABSTRACT

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region of Europe and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the current report showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmitted from both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normal-sized fragments. We report the first case of a genetically confirmed patient with ULD in Korea.


Subject(s)
Blotting, Southern , Cystatin B , Cysteine Proteases , Diagnosis , Europe , Fathers , Heterozygote , Humans , Korea , Mothers , Myoclonic Epilepsies, Progressive , Myoclonus , Prevalence , Seizures , Unverricht-Lundborg Syndrome
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