{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:37:04Z","timestamp":1757612224382,"version":"3.44.0"},"reference-count":16,"publisher":"Institute of Cytology and Genetics, SB RAS","issue":"5","license":[{"start":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T00:00:00Z","timestamp":1756944000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/vavilov.elpub.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Vestn. VOGiS"],"abstract":"<jats:p>\u00a0 \u00a0Crouzon syndrome, which is a hereditary craniosynostosis, can be the result of inheritance from either pa\u00adrent, as well as de novo mutations in the FGFR2 gene. With a confirmed molecular genetic diagnosis, preimplantation genetic testing for monogenic diseases (PGT\u00adM) is available for high\u00adrisk families. However, there is currently little information in the literature about using this approach to prevent this condition.<\/jats:p><jats:p><jats:bold>\u00a0 \u00a0The aim of our study\u00a0<\/jats:bold>was to de\u00ad scribe the clinical case of IVF\/ICSI with PGT\u00adM for Crouzon syndrome with a successful outcome and confirmatory diagnostics. PGT\u00adM was planned and performed for a married couple (aged 24 and 25), in which the husband had Crouzon syndrome.<\/jats:p><jats:p>\u00a0 \u00a0The husband\u2019s father had a milder form of Crouzon syndrome and the pathogenic variant of the FGFR2 gene was in a mosaic form. During preparation, a testing system was selected for the pathogenic variantNM_000141.5(FGFR2):c.1007A&gt;G (p.Asp336Gly) of the FGFR2 gene, and gene\u00adlinked polymorphic microsatellite mar\u00adkers. The STR markers in the husband\u2019s father excluded chimerism for the pathogenic variant and indicated mosaicism with the involvement of germ cells. Molecular genetic analysis was performed using \u0430 nested PCR, with detection by fragment analysis for STRs and restriction analysis of the pathogenic variant. During the IVF program, superovula\u00ad tion stimulation and embryological procedures were performed according to standard protocols. Fertilization was achieved using the ICSI method, and blastocyst biopsy was done on the sixth day of development. For PGT\u00adM, a direct analysis of pathogenic variants and an indirect analysis of selected informative STRs were used. The thawed embryos were transferred based on the results of preimplantation testing. We selected twelve STRs flanking the FGFR2 gene, eight informative ones were used during PGT\u00adM. In the IVF program, 15 mature oocytes were obtained, then four blastocysts were biopsied. One of the four embryos inherited a normal paternal chromosome, the other three had the pathogenic variant and the associated risk haplotype. A singleton pregnancy has occurred as a result of embryo transfer recommended after PGT\u00adM. Following the child\u2019s birth, molecular diagnostics were performed, confirming the PGT\u00adM result. The presented clinical case provides an effective example of IVF with PGT\u00adM to prevent the birth of affected children in families with hereditary craniosynostosis.<\/jats:p>","DOI":"10.18699\/vjgb-25-75","type":"journal-article","created":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T08:53:37Z","timestamp":1756976017000},"page":"685-692","source":"Crossref","is-referenced-by-count":0,"title":["Crouzon syndrome: preimplantation genetic testing for a familial case with a whole and a mosaic variant"],"prefix":"10.18699","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-2972-3253","authenticated-orcid":true,"given":"E. V.","family":"Soloveva","sequence":"first","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3843-3146","authenticated-orcid":true,"given":"M. M.","family":"Skleimova","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1752-2521","authenticated-orcid":true,"given":"L. I.","family":"Minaycheva","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3507-3467","authenticated-orcid":true,"given":"A. F.","family":"Garaeva","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. M.","family":"Bakulina","sequence":"additional","affiliation":[{"name":"Vitromed LLC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. A.","family":"Ladygina","sequence":"additional","affiliation":[{"name":"Vitromed LLC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O. R.","family":"Kanbekova","sequence":"additional","affiliation":[{"name":"Regional Perinatal Center named after I.D. Yevtushenko"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8421-1416","authenticated-orcid":true,"given":"G. N.","family":"Seitova","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences,"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7950","published-online":{"date-parts":[[2025,9,4]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Abou-Sleiman P.M., Apessos A., Harper J.C., Serhal P., Delhanty J.D.A. Pregnancy following preimplantation genetic diagnosis for Crouzon syndrome. Mol Hum Reprod. 2002;8(3):304-309. doi: 10.1093\/molehr\/8.3.304","DOI":"10.1093\/molehr\/8.3.304"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Al-Namnam N.M., Hariri F., Thong M.K., Rahman Z.A. Crouzon syndrome: genetic and intervention review. J Oral Biol Craniofac Res. 2019;9(1):37-39. doi: 10.1016\/j.jobcr.2018.08.007","DOI":"10.1016\/j.jobcr.2018.08.007"},{"key":"ref3","unstructured":"Assisted Reproductive Technology and Artificial Insemination. 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In Vivo. 2023;37(1):36-46. doi: 10.21873\/invivo.13052","DOI":"10.21873\/invivo.13052"}],"container-title":["Vavilov Journal of Genetics and Breeding"],"original-title":[],"link":[{"URL":"https:\/\/vavilov.elpub.ru\/jour\/article\/viewFile\/4757\/1978","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T08:54:11Z","timestamp":1756976051000},"score":1,"resource":{"primary":{"URL":"https:\/\/vavilov.elpub.ru\/jour\/article\/view\/4757"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,4]]},"references-count":16,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,9,4]]}},"URL":"https:\/\/doi.org\/10.18699\/vjgb-25-75","relation":{},"ISSN":["2500-3259"],"issn-type":[{"type":"electronic","value":"2500-3259"}],"subject":[],"published":{"date-parts":[[2025,9,4]]}}}