Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Yanqin YouZhiying Gao

Abstract

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. The method reported here combines novel mutant discovery in known genes by targeted massively parallel sequencing with noninvasive prenatal testing. 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). 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.

References

Feb 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Yan XuXing Ji
May 1, 2015·Journal of Genetic Counseling·Paul SwaneyNeeta Vora
Jul 1, 2018·Cold Spring Harbor Perspectives in Medicine·Shannon M Rego, Michael P Snyder
Jul 7, 2018·BioMed Research International·Irene Gómez-ManjónF Javier Fernández-Martínez
Aug 20, 2020·American Journal of Medical Genetics. Part a·Ola A KhalifaAmr S Moustafa

Citations

Oct 1, 1978·Proceedings of the National Academy of Sciences of the United States of America·F H PettitL J Reed
Oct 22, 2003·Molecular Genetics and Metabolism·Mary M NellisDean J Danner
Oct 8, 2008·Proceedings of the National Academy of Sciences of the United States of America·H Christina FanStephen R Quake
Dec 17, 2008·Proceedings of the National Academy of Sciences of the United States of America·Rossa W K ChiuY M Dennis Lo
Dec 15, 2010·Science Translational Medicine·Y M Dennis LoRossa W K Chiu
Jan 14, 2011·Science Translational Medicine·Callum J BellStephen F Kingsmore
Jul 22, 2011·Nature·Jonathan M RothbergJames Bustillo
Nov 11, 2011·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Tze Kin LauXiuqing Zhang
Feb 24, 2012·The New England Journal of Medicine·Elizabeth G PhimisterAlan E Guttmacher
Jun 8, 2012·Science Translational Medicine·Jacob O KitzmanJay Shendure
Jul 6, 2012·Nature·H Christina FanStephen R Quake
Aug 18, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Xiaoming WeiXin Yi
Dec 19, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Yan SunXin Yi

Related Concepts

Entire Fetus
Maple Syrup Urine Disease
Antenatal Screening Procedures
Prenatal brand of multivitamin
Sequencing
Massively-Parallel Sequencing
Sequence Determinations, DNA
Mutant
Korean Race
Maple Syrup Urine Disease, Thiamine Responsive

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.

Related Papers

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Tze Kin LauXiuqing Zhang
© 2020 Meta ULC. All rights reserved