Yanqin You1, Yan Sun2, Xuchao Li3, Yali Li1, Xiaoming Wei2, Fang Chen3, Huijuan Ge3, Zhangzhang Lan2, Qian Zhu2, Ying Tang4, Shujuan Wang1, Ya Gao5, Fuman Jiang5, Jiaping Song2, Quan Shi2, Xuan Zhu4, Feng Mu4, Wei Dong4, Vince Gao6, Hui Jiang7, Xin Yi8, Wei Wang9, Zhiying Gao1. 1. Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China. 2. 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China. 3. 1] BGI-Shenzhen, Shenzhen, China [2] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [3] Key Laboratory of Cooperation Project in Guangdong Province, Guangdong, China. 4. China Clinical Lab of Beijing, BGI-Health, Beijing, China. 5. 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [4] Shenzhen Municipal Key Laboratory of Genome Science, Shenzhen, China. 6. 1] BGI-Shenzhen, Shenzhen, China [2] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [3] Research and Development, BGI-Health, Shenzhen, China. 7. 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Genome Science, Shenzhen, China [4] Guangdong Provincial Key Laboratory of Human Diseases Genome, Guangdong, China. 8. BGI-Shenzhen, Shenzhen, China. 9. 1] BGI-Shenzhen, Shenzhen, China [2] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Genome Science, Shenzhen, China [4] Guangdong Provincial Key Laboratory of Human Diseases Genome, Guangdong, China.
Abstract
PURPOSE: This article demonstrates a prominent noninvasive prenatal approach to assist the clinical diagnosis of a single-gene disorder disease, maple syrup urine disease, using targeted sequencing knowledge from the affected family. METHODS: The method reported here combines novel mutant discovery in known genes by targeted massively parallel sequencing with noninvasive prenatal testing. RESULTS: By applying this new strategy, we successfully revealed novel mutations in the gene BCKDHA (Ex2_4dup and c.392A>G) in this Chinese family and developed a prenatal haplotype-assisted approach to noninvasively detect the genotype of the fetus (transmitted from both parents). CONCLUSION: This is the first report of integration of targeted sequencing and noninvasive prenatal testing into clinical practice. Our study has demonstrated that this massively parallel sequencing-based strategy can potentially be used for single-gene disorder diagnosis in the future.
PURPOSE: This article demonstrates a prominent noninvasive prenatal approach to assist the clinical diagnosis of a single-gene disorder disease, maple syrup urine disease, using targeted sequencing knowledge from the affected family. METHODS: The method reported here combines novel mutant discovery in known genes by targeted massively parallel sequencing with noninvasive prenatal testing. RESULTS: By applying this new strategy, we successfully revealed novel mutations in the gene BCKDHA (Ex2_4dup and c.392A>G) in this Chinese family and developed a prenatal haplotype-assisted approach to noninvasively detect the genotype of the fetus (transmitted from both parents). CONCLUSION: This is the first report of integration of targeted sequencing and noninvasive prenatal testing into clinical practice. Our study has demonstrated that this massively parallel sequencing-based strategy can potentially be used for single-gene disorder diagnosis in the future.
Authors: Diana Ruffato Resende Campanholi; Ana Vitoria Barban Margutti; Wilson A Silva; Daniel F Garcia; Greice A Molfetta; Adriana A Marques; Ida Vanessa Döederlein Schwartz; V Cornejo; Valerie Hamilton; Gabriela Castro; Fernanda Sperb-Ludwig; Ester S Borges; José S Camelo Journal: Mol Genet Genomic Med Date: 2021-05-06 Impact factor: 2.183
Authors: Megan Allyse; Mollie A Minear; Elisa Berson; Shilpa Sridhar; Margaret Rote; Anthony Hung; Subhashini Chandrasekharan Journal: Int J Womens Health Date: 2015-01-16