A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report
作者: Justyna A. KarolakTomasz GambinEngela M. HoneyTomas SlavikEdwina PopekPaweł Stankiewicz
作者单位: 1Department of Molecular & Human Genetics, Baylor College of Medicine, 77030, Houston, TX, USA
2Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-781, Poznan, Poland
3Institute of Computer Science, Warsaw University of Technology, 00-665, Warsaw, Poland
4Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Science, University of Pretoria, Pretoria, South Africa
5Ampath Pathology Laboratories, and Department of Anatomical Pathology, University of Pretoria, Pretoria, South Africa
6Department of Pathology and Immunology, Baylor College of Medicine, 77030, Houston, TX, USA
刊名: BMC Medical Genomics, 2020, Vol.13 (14), pp.74-82
来源数据库: Springer Nature Journal
DOI: 10.1186/s12920-020-0701-6
关键词: Multi-locus genomic variationsDual molecular diagnosisT-box transcription factor 4
英文摘要: Abstract(#br)Background(#br)Application of whole genome sequencing (WGS) enables identification of non-coding variants that play a phenotype-modifying role and are undetectable by exome sequencing. Recently, non-coding regulatory single nucleotide variants (SNVs) have been reported in patients with lethal lung developmental disorders (LLDDs) or congenital scoliosis with recurrent copy-number variant (CNV) deletions at 17q23.1q23.2 or 16p11.2, respectively. Case presentation(#br)Here, we report a deceased newborn with pulmonary hypertension and pulmonary interstitial emphysema with features suggestive of pulmonary hypoplasia, resulting in respiratory failure and neonatal death soon after birth. Using the array comparative genomic hybridization and WGS , two heterozygous recurrent CNV...
全文获取路径: Springer Nature  (合作)
影响因子:3.466 (2012)