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
- 299 - 310 (12page)
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초록· 키워드
오류제보하기
Background: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). Methods: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients. To determine whether the CMA results directly influenced treatment recommendations, the referring clinicians were asked to complete a 39-item questionnaire for each patient separately after receiving the CMA results. Results: A total of 122 patients (19.8%) had abnormal CMA results, with either pathogenic variants (N=65) or variants of possible significance (VPS, N=57). Thirty-five well-known diseases were detected: 16p11.2 microdeletion syndrome was the most common, followed by Prader–Willi syndrome, 15q11-q13 duplication, Down syndrome, and Duchenne muscular dystrophy. Variants of unknown significance (VUS) were discovered in 51 patients (8.3%). VUS of genes putatively associated with developmental disorders were found in five patients: IMMP2L deletion, PTCH1 duplication, and ATRNL1 deletion. CMA results influenced clinical management, such as imaging studies, specialist referral, and laboratory testing in 71.4% of patients overall, and in 86.0%, 83.3%, 75.0%, and 67.3% of patients with VPS, pathogenic variants, VUS, and benign variants, respectively. Conclusions: Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA.
목차
등록된 정보가 없습니다.
참고문헌 (32)
참고문헌 신청
Girirajan S / 2011 / Human copy number variation and complex genetic disease / Annu Rev Genet 45:203~226
Miller DT / 2010 / Consensus statement : chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies / Am J Hum Genet 86:749~764
Manning M / 2010 / Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities / Genet Med 12:742~745
Sanmann JN / 2015 / Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray / Genet Med 17:875~879
Haddow JE / 2004 / Human genome epidemiology: a scientific foundation for using genetic information to improve health and prevent disease / Oxford University Press :217~233
Miller DT / 2010 / Consensus statement : chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies / Am J Hum Genet 86:749~764
Manning M / 2010 / Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities / Genet Med 12:742~745
Sanmann JN / 2015 / Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray / Genet Med 17:875~879
Haddow JE / 2004 / Human genome epidemiology: a scientific foundation for using genetic information to improve health and prevent disease / Oxford University Press :217~233
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