Detection of Mosaic Sequence Variants Associated with Human Genetic Diseases
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Mosaicism refers to cells with different genetic makeups within a single zygote. Although relatively common, the frequency of mosaicism is often underestimated, particularly in low-grade cases, due to limitations in detection methods. This review focuses on mosaicism and various detection techniques, emphasizing the types of specimens and tissues involved. While next-generation sequencing is a highly effective detection method, other techniques are expected to play a significant role in the identification or confirmation of mosaicism.
Abstract
Mosaicism refers to cells with different genetic makeups within a single zygote. Although relatively common, the frequency of mosaicism is often underestimated, particularly in low-grade cases, due to limitations in detection methods. This review focuses on mosaicism and various detection techniques, emphasizing the types of specimens and tissues involved. While next-generation sequencing is a highly effective detection method, other techniques are expected to play a significant role in the identification or confirmation of mosaicism.
참고문헌 (46)
- Thorpe J, "Mosaicism in human health and disease", Annu Rev Genet, 54, pp.487~510 (2020)
- Freed D, "Somatic mosaicism in the human genome", Genes(Basel), 5, pp.1064~1094 (2014)
- Campbell IM, "Somatic mosaicism : implications for disease and transmission genetics", Trends Genet, 31, pp.382~392 (2015)
- Huang AY, "Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals", Cell Res, 24, pp.1311~1327 (2014)
- Lim YH, "Mosaicism in cutaneous disorders", Annu Rev Genet, 51, pp.123~141 (2017)
- D’Gama AM, "Somatic mosaicism and neurodevelopmental disease", Nat Neurosci, 21, pp.1504~1514 (2018)
- Kurek KC, "Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome", Am J Hum Genet, 90, pp.1108~1115 (2012)
- Cao Y, "A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing", Genome Med, 11, pp.48~ (2019)
- D’Gama AM, "Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias", Cell Rep, 21, pp.3754~3766 (2017)
- Lim JS, "Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia", Am J Hum Genet, 100, pp.454~472 (2017)
- Perez D, "Somatic mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature", Am J Med Genet A, 173, pp.1625~1630 (2017)
- Freed D, "The contribution of mosaic variants to autism spectrum disorder", PLoS Genet, 12, pp.e1006245~ (2016)
- Krupp DR, "Exonic mosaic mutations contribute risk for autism spectrum disorder", Am J Hum Genet, 101, pp.369~390 (2017)
- Dou Y, "Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations", Hum Mutat, 38, pp.1002~1013 (2017)
- Wright CF, "Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data", Nat Commun, 10, pp.2985~ (2019)
- García-Romero MT, "Mosaic neurofibromatosis type 1 : a systematic review", Pediatr Dermatol, 33, pp.9~17 (2016)
- Giannikou K, "Low-level mosaicism in tuberous sclerosis complex : prevalence, clinical features, and risk of disease transmission", Genet Med, 21, pp.2639~2643 (2019)
- Cook CB, "Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease : clinical and genetic counseling implications", Cold Spring Harb Mol Case Stud, 7, pp.a006125~ (2021)
- Aretz S, "Somatic APC mosaicism : a frequent cause of familial adenomatous polyposis(FAP)", Hum Mutat, 28, pp.985~992 (2007)
- Hes FJ, "Somatic APC mosaicism : an underestimated cause of polyposis coli", Gut, 57, pp.71~76 (2008)
- Petrackova A, "Standardization of sequencing coverage depth in NGS : recommendation for detection of clonal and subclonal mutations in cancer diagnostics", Front Oncol, 9, pp.851~ (2019)
- Kinde I, "Detection and quantification of rare mutations with massively parallel sequencing", Proc Natl Acad Sci U S A, 108, pp.9530~9535 (2011)
- Hiatt JB, "Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation", Genome Res, 23, pp.843~854 (2013)
- Boyle EA, "MIPgen : optimized modeling and design of molecular inversion probes for targeted resequencing", Bioinformatics, 30, pp.2670~2672 (2014)
- MacConaill LE, "Unique, dual-indexed sequencing adapters with UMIs effectively eliminate index cross-talk and significantly improve sensitivity of massively parallel sequencing", BMC Genomics, 19, pp.30~ (2018)
- Hirotsu Y, "Dual-molecular barcode sequencing detects rare variants in tumor and cell free DNA in plasma", Sci Rep, 10, pp.3391~ (2020)
- Yeom H, "Barcode-free next-generation sequencing error validation for ultra-rare variant detection", Nat Commun, 10, pp.977~ (2019)
- Gambin T, "Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions", Genet Med, 22, pp.1768~1776 (2020)
- Cibulskis K, "Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples", Nat Biotechnol, 31, pp.213~219 (2013)
- Koboldt DC, "VarScan 2 : somatic mutation and copy number alteration discovery in cancer by exome sequencing", Genome Res, 22, pp.568~576 (2012)
- Yang X, "Control-independent mosaic single nucleotide variant detection with DeepMosaic", Nat Biotechnol, 41, pp.870~877 (2023)
- Dou Y, "Accurate detection of mosaic variants in sequencing data without matched controls", Nat Biotechnol, 38, pp.314~319 (2020)
- Goriely A, "Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome : implications for genetic testing in"paternal age-effect"syndromes", Am J Med Genet A, 152A, pp.2067~2073 (2010)
- Hyland VJ, "Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia", Am J Med Genet A, 120A, pp.157~168 (2003)
- Taylor SA, "Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B(factor IX deficiency)", Proc Natl Acad Sci U S A, 88, pp.39~42 (1991)
- Costa JM, "Somatic mosaicism and compound heterozygosity in female hemophilia B", Blood, 96, pp.1585~1587 (2000)
- Leuer M, "Somatic mosaicism in hemophilia A : a fairly common event", Am J Hum Genet, 69, pp.75~87 (2001)
- Lemmers RJ, "Somatic mosaicism in FSHD often goes undetected", Ann Neurol, 55, pp.845~850 (2004)
- Buzhov BT, "Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy", Neuromuscul Disord, 15, pp.471~475 (2005)
- Lim JS, "Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy", Nat Med, 21, pp.395~400 (2015)
- Møller RS, "Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy", Neurol Genet, 2, pp.e118~ (2016)
- Lalonde E, "Molecular diagnosis of somatic overgrowth conditions : a single-center experience", Mol Genet Genomic Med, 7, pp.e536~ (2019)
- Lindhurst MJ, "A mosaic activating mutation in AKT1 associated with the Proteus syndrome", N Engl J Med, 365, pp.611~619 (2011)
- Wieland I, "High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome", Am J Med Genet A, 161A, pp.889~891 (2013)
- Hildebrand MS, "Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome", Neurol Genet, 4, pp.e236~ (2018)
- Tyburczy ME, "Mosaic and intronic mutations in TSC1", TSC2 explain the majority of TSC patients with no mutation identified by conventional testing, 2015, pp.11, e1005637~
