Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms

Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015;31(7):382–92.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, et al. Timing, rates and spectra of human germline mutation. Nat Genet. 2016;48(2):126–33.

Article  CAS  PubMed  Google Scholar 

Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, et al. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014;95(2):173–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bakker E, Veenema H, Den Dunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, et al. Germinal mosaicism increases the recurrence risk for “new” Duchenne muscular dystrophy mutations. J Med Genet. 1989;26(9):553–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Campbell IM, Stewart JR, James RA, Lupski JR, Stankiewicz P, Olofsson P, et al. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet. 2014;95(4):345–59.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hoffman EP, Dressman D. Molecular pathophysiology and targeted therapeutics for muscular dystrophy. Trends Pharmacol Sci. 2001;22(9):465–70.

Article  CAS  PubMed  Google Scholar 

Guiraud S, Chen H, Burns DT, Davies KE. Advances in genetic therapeutic strategies for Duchenne muscular dystrophy. Exp Physiol. 2015;100(12):1458–67.

Article  PubMed  PubMed Central  Google Scholar 

Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251–67.

Article  PubMed  PubMed Central  Google Scholar 

Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, et al. Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. J Hum Genet. 2014;59(1):46–50.

Article  CAS  PubMed  Google Scholar 

O’Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet. 1998;351(9114):1490.

Article  CAS  PubMed  Google Scholar 

Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015;14(7):733–45.

Article  PubMed  Google Scholar 

Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9(2):88–100.

Article  CAS  PubMed  Google Scholar 

Naja RP, Dhanjal S, Doshi A, Serhal P, Delhanty J, SenGupta SB. The impact of mosaicism in preimplantation genetic diagnosis (PGD): approaches to PGD for dominant disorders in couples without family history. Prenat Diagn. 2016;36(9):864–70.

Article  CAS  PubMed  Google Scholar 

Altarescu G, Beeri R, Eldar-Geva T, Varshaver I, Margalioth EJ, Levy-Lahad E, et al. PGD for germline mosaicism. Reprod Biomed Online. 2012;25(4):390–5.

Article  CAS  PubMed  Google Scholar 

Patel B, Byrne JLB, Phillips A, Hotaling JM, Johnstone EB. When standard genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism. Fertil Steril. 2018;110(4):732–6.

Article  PubMed  Google Scholar 

Chen L, Diao Z, Xu Z, Zhou J, Yan G, Sun H. The clinical application of NGS-based SNP haplotyping for PGD of Hb H disease. Syst Biol Reprod Med. 2017;63(3):212–7.

Article  PubMed  Google Scholar 

Ji X, Zhang Z, Shi J, He B. Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma. Syst Biol Reprod Med. 2019;65(3):258–63.

Article  CAS  PubMed  Google Scholar 

Backenroth D, Zahdeh F, Kling Y, Peretz A, Rosen T, Kort D, et al. Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy. Genet Med. 2019;21(6):1390–9.

Article  CAS  PubMed  Google Scholar 

Pennisi E. A closer look at SNPs suggests difficulties. Science. 1998;281(5384):1787–9.

Article  CAS  PubMed  Google Scholar 

Wang Y, Qin M, Yan Z, Guan S, Kuo Y, Kong S, Nie Y, Zhu X, Zhi X, Qiao J, Yan L. A strategy using SNP linkage analysis for monogenic diseases PGD combined with HLA typing. Clin Genet. 2020;98(2):138–46.

Article  CAS  PubMed  Google Scholar 

Chen D, Shen X, Wu C, Xu Y, Ding C, Zhang G, et al. Eleven healthy live births: a result of simultaneous preimplantation genetic testing of alpha- and beta-double thalassemia and aneuploidy screening. J Assist Reprod Genet. 2020;37(3):549–57.

Article  PubMed  PubMed Central  Google Scholar 

Ren Y, Zhi X, Zhu X, Huang J, Lian Y, Li R, et al. Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy. J Genet Genomics. 2016;43(9):541–7.

Article  PubMed  Google Scholar 

Chen L, Diao Z, Xu Z, Zhou J, Yan G, Sun H. The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta. Syst Biol Reprod Med. 2019;65(1):75–80.

Article  CAS  PubMed  Google Scholar 

Renbaum P, Brooks B, Kaplan Y, Eldar-Geva T, Margalioth EJ, Levy-Lahad E, et al. Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease. Prenat Diagn. 2007;27(4):317–21.

Article  CAS  PubMed  Google Scholar 

Gajecka M. Unrevealed mosaicism in the next-generation sequencing era. Mol Genet Genomics. 2016;291(2):513–30.

Article  CAS  PubMed  Google Scholar 

Viart V, Willems M, Ishmukhametova A, Dufernez F, Anahory T, Hamamah S, et al. Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin. Prenat Diagn. 2017;37(2):201–5.

Article  CAS  PubMed  Google Scholar 

Wu H, Shen X, Huang L, Zeng Y, Gao Y, Shao L, et al. Genotyping single-sperm cells by universal MARSALA enables the acquisition of linkage information for combined pre-implantation genetic diagnosis and genome screening. J Assist Reprod Genet. 2018;35(6):1071–8.

Article  PubMed  PubMed Central  Google Scholar 

Wang Y, Zhu X, Yan Z, Zhi X, Guan S, Kuo Y, et al. Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation. J Assist Reprod Genet. 2020;37(5):1239–50.

Article  PubMed  PubMed Central  Google Scholar 

Huang L, Ma F, Chapman A, Lu S, Xie XS. Single-cell whole-genome amplification and sequencing: methodology and applications. Annu Rev Genomics Hum Genet. 2015;16:79–102.

Article  CAS  PubMed  Google Scholar 

Hu X, He WB, Zhang SP, Luo KL, Gong F, Dai J, et al. Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism. Mol Genet Genomic Med. 2021;9(5):e1662.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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