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Original Research

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

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Pages 467-472 | Published online: 09 Dec 2021

References

  • Fine J-D, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70(6):1103–1126. doi:10.1016/j.jaad.2014.01.903
  • Järvikallio A, Pulkkinen L, Uitto J. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum Mutat. 1997;10(5):338–347. doi:10.1002/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B
  • Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J. Phenotypic spectrum of epidermolysis bullosa: the paradigm of syndromic versus non-syndromic skin fragility disorders. J Investig Dermatol. 2019;139(3):522–527. doi:10.1016/j.jid.2018.10.017
  • Has C, Fischer J. Inherited epidermolysis bullosa: new diagnostics and new clinical phenotypes. Exp Dermatol. 2019;28(10):1146–1152. doi:10.1111/exd.13668
  • Christiano AM, Hoffman GG, Chung-Honet LC, et al. Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics. 1994;21(1):169–179. doi:10.1006/geno.1994.1239
  • Uitto J. The molecular basis of the dystrophic forms of epidermolysis bullosa. In: Epidermolysis Bullosa Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry; 1999.
  • Uitto J, Pulkkinen L. The genodermatoses: candidate diseases for gene therapy. Hum Gene Ther. 2000;11(16):2267–2275. doi:10.1089/104303400750035807
  • Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler‐Faccini L, Kiszewski AE. Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: a comprehensive review. Clin Genet. 2021;99(1):29–41. doi:10.1111/cge.13792
  • Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes. J Med Genet. 2007;44(3):181–192. doi:10.1136/jmg.2006.045302
  • Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C. Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype–phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Investig Dermatol. 2006;126(5):1006–1012. doi:10.1038/sj.jid.5700219
  • Simpson JL, Kuliev A, Rechitsky S. Overview of preimplantation genetic diagnosis (PGD): historical perspective and future direction. In: Prenatal Diagnosis; 2019:23–43.
  • Uitto J, Pulkkinen L, Ringpfeil F. Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum. Journal of Investigative Dermatology Symposium Proceedings. Elsevier; 2002:6–16.
  • Ma THT, Luong TLA, Hoang TL, et al. Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing. Mol Genet Genomic Med. 2021;9(8):e1748. doi:10.1002/mgg3.1748
  • Coonen E, Van Montfoort A, Carvalho F, et al. ESHRE PGT Consortium data collection XVI–XVIII: cycles from 2013 to 2015. Hum Reprod Open. 2020;2020(4):hoaa043. doi:10.1093/hropen/hoaa043
  • Sciorio R, Tramontano L, Catt J. Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges. Gynecol Endocrinol. 2020;36(1):6–11. doi:10.1080/09513590.2019.1641194
  • Committee EPCS, Carvalho F, Coonen E, et al. ESHRE PGT Consortium good practice recommendations for the organisation of PGT. Hum Reprod Open. 2020;2020(3):hoaa021. doi:10.1093/hropen/hoaa021
  • Viotti M. Preimplantation genetic testing for chromosomal abnormalities: aneuploidy, mosaicism, and structural rearrangements. Genes. 2020;11(6):602. doi:10.3390/genes11060602
  • Fassihi H, Renwick P, Black C, McGrath J. Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau–Siemens recessive dystrophic epidermolysis bullosa. J Dermatol Sci. 2006;42(3):241–248. doi:10.1016/j.jdermsci.2006.01.005
  • Ozge A, Safak H, Ebru H, et al. First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c. 4505-4508insACTC mutation. J Assist Reprod Genet. 2012;29(4):347–352. doi:10.1007/s10815-012-9728-8
  • Vendrell X, Bautista-Llácer R, Alberola TM, et al. Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics. J Assist Reprod Genet. 2011;28(9):825–832. doi:10.1007/s10815-011-9601-1
  • Cserhalmi‐Friedman P, Tang Y, Adler A, Krey L, Grifo J, Christiano A. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Exp Dermatol. 2000;9(4):290–297.
  • Fassihi H, Liu L, Renwick P, Braude P, McGrath J. Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. Br J Dermatol. 2010;162(6):1330–1336.
  • Thornhill AR, Snow K. Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn. 2002;4(1):11–29. doi:10.1016/S1525-1578(10)60676-9
  • Thornhill AR, deDie-Smulders C, Geraedts JP, et al. ESHRE PGD Consortium ‘Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’. Hum Reprod. 2005;20(1):35–48. doi:10.1093/humrep/deh579
  • Harton G, De Rycke M, Fiorentino F, et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26(1):33–40. doi:10.1093/humrep/deq231
  • Spits C, Le Caignec C, De Rycke M, et al. Optimization and evaluation of single‐cell whole‐genome multiple displacement amplification. Hum Mutat. 2006;27(5):496–503. doi:10.1002/humu.20324
  • Ling J, Zhuang G, Tazon-Vega B, et al. Evaluation of genome coverage and fidelity of multiple displacement amplification from single cells by SNP array. Mol Hum Reprod. 2009;15(11):739–747. doi:10.1093/molehr/gap066
  • Sacchi L, Albani E, Cesana A, et al. Preimplantation genetic testing for aneuploidy improves clinical, gestational, and neonatal outcomes in advanced maternal age patients without compromising cumulative live-birth rate. J Assist Reprod Genet. 2019;36(12):2493–2504. doi:10.1007/s10815-019-01609-4
  • Forman EJ, Hong KH, Franasiak JM, Scott RT Jr. Obstetrical and neonatal outcomes from the BEST Trial: single embryo transfer with aneuploidy screening improves outcomes after in vitro fertilization without compromising delivery rates. Am J Obstet Gynecol. 2014;210(2):157. e1–157. e6. doi:10.1016/j.ajog.2013.10.016
  • Penzias A, Bendikson K, Butts S, et al. The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion. Fertil Steril. 2018;109(3):429–436. doi:10.1016/j.fertnstert.2018.01.002
  • Zakaria M, Ennaji M, Wassym SR, et al. PGT-A for embryos for transfer and to improve clinical outcomes in terms of embryo implantation, and recommendations embryo biopsy for at blastocyst stage. J Basic Clin Reprod Sci. 2020;9(5). doi:10.4103/2278-960X.1945146
  • Franasiak JM, Forman EJ, Hong KH, et al. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril. 2014;101(3):656–663. e1. doi:10.1016/j.fertnstert.2013.11.004
  • Rubio C, Rodrigo L, Garcia-Pascual C, et al. Clinical application of embryo aneuploidy testing by next-generation sequencing. Biol Reprod. 2019;101(6):1083–1090. doi:10.1093/biolre/ioz019
  • Anderson R, Whitney J, Schiewe M. Clinical benefits of preimplantation genetic testing for aneuploidy (PGT-A) for all in vitro fertilization treatment cycles. Eur J Med Genet. 2020;63(2):103731. doi:10.1016/j.ejmg.2019.103731