지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 193 - 197 (5page)
이용수
초록· 키워드
오류제보하기
Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (${\alpha}3$, ${\alpha}4$, and ${\alpha}5$). 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 ${\alpha}5$ 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.
목차
등록된 정보가 없습니다.
참고문헌 (0)
참고문헌 신청함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation
Childhood Kidney Diseases
2021 .12
-
A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly
Neonatal medicine
2020 .01
-
Alport syndrome: new advances in the last decade
Childhood Kidney Diseases
2022 .06
-
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea
Journal of Clinical Neurology
2017 .01
-
한국인에서의 COL2A1 유전자 다형성과 강직성 척추염의 연관성
대한척추외과학회지
2020 .01
-
Novel Biomarkers of Health and Degeneration in Human Intervertebral Discs: In-depth Proteomic Analysis of Collagen Framework of Fetal, Healthy, Scoliotic, Degenerate, and Herniated Discs
Asian Spine Journal
2023 .02
-
Collagen 24A1, a Potential Prognostic Biomarker in Hepatocellular Carcinoma
해부·생물인류학
2024 .06
-
The Effect of Trigonella foenum-graceum L. (Fenugreek) Towards Collagen Type I Alpha 1 (COL1A1) and Collagen Type III Alpha 1 (COL3A1) on Postmenopausal Woman’s Fibroblast
Natural Product Sciences
2019 .09
-
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
Journal of Clinical Neurology
2015 .01
-
Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome
Kidney Research and Clinical Practice
2020 .01
-
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta
Annals of Pediatirc Endocrinology & Metabolism
2022 .03
-
Prognostic value of COL6A3 in pancreatic adenocarcinoma
Annals of Hepato-Biliary-Pancreatic Surgery
2020 .02
-
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Annals of Laboratory Medicine
2017 .01
-
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea
Annals of Laboratory Medicine
2016 .01
-
Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy
Annals of Clinical Neurophysiology
2018 .01
-
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
Endocrinology and Metabolism
2018 .01
-
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
-
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Journal of Korean Medical Science
2019 .01
-
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Pediatric Gastroenterology, Hepatology & Nutrition
2019 .01
-
Mutation Cases in the Korean Population using 23 Autosomal STR Loci Analysis
대한의생명과학회지
2021 .06
이 논문의 저자 정보
최근 본 자료
댓글(0)
0