Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia
Abstract Background Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene. Case presentation This article presents a clinical case of preimplantation genetic testing for monogen...
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2025-02-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | https://doi.org/10.1186/s43042-025-00649-z |
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| author | Ziravard N. Tonyan Yulia A. Nasykhova Maria M. Danilova Elena S. Shabanova Olesya N. Bespalova Igor Y. Kogan Andrey S. Glotov |
| author_facet | Ziravard N. Tonyan Yulia A. Nasykhova Maria M. Danilova Elena S. Shabanova Olesya N. Bespalova Igor Y. Kogan Andrey S. Glotov |
| author_sort | Ziravard N. Tonyan |
| collection | DOAJ |
| description | Abstract Background Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene. Case presentation This article presents a clinical case of preimplantation genetic testing for monogenic disorders (PGT-M) conducted for a family with two previous pregnancy losses due to diastrophic dysplasia in the fetus. We report a previously uncharacterized variant c.1358C > T in the SLC26A2 gene associated with diastrophic dysplasia. We detail the approach to performing PGT-M in the absence of material from the proband and close relatives from one partner for analysis. A testing system was developed to analyze pathogenic variants in the SLC26A2 gene, alongside with indirect markers such as short tandem repeats and single nucleotide polymorphisms. This allowed us to identify linkage groups associated with the analyzed pathogenic variants during the in vitro fertilization cycle with PGT-M, enabling the selection of an embryo that did not inherit pathogenic variants from either parent. The transfer of this embryo resulted in a successful pregnancy, resulting in the birth of a healthy child. Conclusion To our knowledge, this is a first report of variant c.1358C > T in the SLC26A2 gene associated with diastrophic dysplasia. The successful application of PGT-M enabled the selection of an embryo free from inherited pathogenic variants from both parents, highlighting the importance of PGT-M in improving reproductive outcomes for affected families. |
| format | Article |
| id | doaj-art-a9ebbe13424647469fd18bf1907600cf |
| institution | Kabale University |
| issn | 2090-2441 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj-art-a9ebbe13424647469fd18bf1907600cf2025-02-09T12:40:06ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412025-02-012611910.1186/s43042-025-00649-zCase report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasiaZiravard N. Tonyan0Yulia A. Nasykhova1Maria M. Danilova2Elena S. Shabanova3Olesya N. Bespalova4Igor Y. Kogan5Andrey S. Glotov6Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyDepartment of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyDepartment of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyDepartment of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyDepartment of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyDepartment of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyDepartment of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyAbstract Background Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene. Case presentation This article presents a clinical case of preimplantation genetic testing for monogenic disorders (PGT-M) conducted for a family with two previous pregnancy losses due to diastrophic dysplasia in the fetus. We report a previously uncharacterized variant c.1358C > T in the SLC26A2 gene associated with diastrophic dysplasia. We detail the approach to performing PGT-M in the absence of material from the proband and close relatives from one partner for analysis. A testing system was developed to analyze pathogenic variants in the SLC26A2 gene, alongside with indirect markers such as short tandem repeats and single nucleotide polymorphisms. This allowed us to identify linkage groups associated with the analyzed pathogenic variants during the in vitro fertilization cycle with PGT-M, enabling the selection of an embryo that did not inherit pathogenic variants from either parent. The transfer of this embryo resulted in a successful pregnancy, resulting in the birth of a healthy child. Conclusion To our knowledge, this is a first report of variant c.1358C > T in the SLC26A2 gene associated with diastrophic dysplasia. The successful application of PGT-M enabled the selection of an embryo free from inherited pathogenic variants from both parents, highlighting the importance of PGT-M in improving reproductive outcomes for affected families.https://doi.org/10.1186/s43042-025-00649-zDiastrophic dysplasiaAssisted reproductive technologyPreimplantation genetic testingSLC26A2PGT-MHaplotype analysis |
| spellingShingle | Ziravard N. Tonyan Yulia A. Nasykhova Maria M. Danilova Elena S. Shabanova Olesya N. Bespalova Igor Y. Kogan Andrey S. Glotov Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia Egyptian Journal of Medical Human Genetics Diastrophic dysplasia Assisted reproductive technology Preimplantation genetic testing SLC26A2 PGT-M Haplotype analysis |
| title | Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia |
| title_full | Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia |
| title_fullStr | Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia |
| title_full_unstemmed | Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia |
| title_short | Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia |
| title_sort | case report identification of novel variant in slc26a2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia |
| topic | Diastrophic dysplasia Assisted reproductive technology Preimplantation genetic testing SLC26A2 PGT-M Haplotype analysis |
| url | https://doi.org/10.1186/s43042-025-00649-z |
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