지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 58 - 62 (5page)
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초록· 키워드
오류제보하기
Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient using whole exome sequencing (WES). A four-day-old female neonate presented with respiratory failure due to severe metabolic encephalopathy with hyperammonemia (1,690 μmol/L; reference range, 11.2-48.2 μmol/L). Plasma amino acid analysis revealed markedly elevated levels of alanine (2,923 μmol/L; reference range, 131-710 μmol/L) and glutamine (5,777 μmol/L; reference range, 376-709 μmol/L), whereas that of citrulline was decreased (2 μmol/L; reference range, 10-45 μmol/L). WES revealed compound heterozygous pathogenic variants in the CPS1 gene: one novel nonsense pathogenic variant of c.580C>T (p.Gln194*) and one known pathogenic frameshift pathogenic variant of c.1547delG (p.Gly516Alafs*5), which was previously reported in Japanese patients with CPS1D. We successfully applied WES to molecularly diagnose the first Korean patient with CPS1D in a clinical setting. This result supports the clinical applicability of WES for cost-effective molecular diagnosis of UCDs.
목차
등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Ah Mew N / 2011 / GeneReviews(R) / University of Washington
Amstutz U / 2011 / Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders / Clin Chem 57 : 1
Aoshima T / 2001 / Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis / Prenat Diagn 21 : 634 ~ 637
Biesecker LG / 2014 / Diagnostic clinical genome and exome sequencing / N Engl J Med 370 : 2418 ~ 2425
Carss KJ / 2014 / Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound / Hum Mol Genet 23 : 3269 ~ 3277
Amstutz U / 2011 / Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders / Clin Chem 57 : 1
Aoshima T / 2001 / Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis / Prenat Diagn 21 : 634 ~ 637
Biesecker LG / 2014 / Diagnostic clinical genome and exome sequencing / N Engl J Med 370 : 2418 ~ 2425
Carss KJ / 2014 / Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound / Hum Mol Genet 23 : 3269 ~ 3277
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