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Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.
You, Yanqin; Sun, Yan; Li, Xuchao; Li, Yali; Wei, Xiaoming; Chen, Fang; Ge, Huijuan; Lan, Zhangzhang; Zhu, Qian; Tang, Ying; Wang, Shujuan; Gao, Ya; Jiang, Fuman; Song, Jiaping; Shi, Quan; Zhu, Xuan; Mu, Feng; Dong, Wei; Gao, Vince; Jiang, Hui; Yi, Xin; Wang, Wei; Gao, Zhiying.
Affiliation
  • You Y; Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China.
  • Sun Y; 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.
  • Li X; 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.
  • Li Y; Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China.
  • Wei X; 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.
  • Chen F; 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.
  • Ge H; 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.
  • Lan Z; 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.
  • Zhu Q; 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.
  • Tang Y; China Clinical Lab of Beijing, BGI-Health, Beijing, China.
  • Wang S; Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China.
  • Gao Y; 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.
  • Jiang F; 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.
  • Song J; 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.
  • Shi Q; 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.
  • Zhu X; China Clinical Lab of Beijing, BGI-Health, Beijing, China.
  • Mu F; China Clinical Lab of Beijing, BGI-Health, Beijing, China.
  • Dong W; China Clinical Lab of Beijing, BGI-Health, Beijing, China.
  • Gao V; 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.
  • Jiang H; 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.
  • Yi X; BGI-Shenzhen, Shenzhen, China.
  • Wang W; 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.
  • Gao Z; Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China.
Genet Med ; 16(8): 594-600, 2014 Aug.
Article in En | MEDLINE | ID: mdl-24603436
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.
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Full text: 1 Database: MEDLINE Main subject: Prenatal Diagnosis / Sequence Analysis, DNA / Amino Acids, Branched-Chain / Maple Syrup Urine Disease Type of study: Diagnostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: China
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Full text: 1 Database: MEDLINE Main subject: Prenatal Diagnosis / Sequence Analysis, DNA / Amino Acids, Branched-Chain / Maple Syrup Urine Disease Type of study: Diagnostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: China