Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
TSPYL1
epilepsy
extension phenotype spectrum
review
sudden infant death syndrome
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
revised:
13
05
2022
received:
18
02
2022
accepted:
25
07
2022
pubmed:
10
9
2022
medline:
15
11
2022
entrez:
9
9
2022
Statut:
ppublish
Résumé
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare autosomal recessive disorder associating developmental sex disorder (DSD) in patients with 46,XY karyotype and visceroautonomic dysfunction responsible for sudden infant death. First described in 2004, very few patients have since been reported. We describe here a new patient with SIDDT and epileptic encephalopathy (EE). We provide the phenotypic description and genetic results of a boy carrying biallelic TSPYL1 deleterious variants. We also reviewed the data of the 26 previously described patients with SIDDT. Our patient presented gonadal dysgenesis, cardio-respiratory dysfunction, and repeated seizures, leading in 1 month to severe intractable EE. He died at age 10 months of cardiorespiratory arrest. Four other reported patients from two families presented with progressive epilepsy, including one with severe EE. No similar phenotype was described in the 22 other patients and the recurrent variant p.Val242Glufs*52 appears to be more frequently associated with seizures. To note, our patient is the first case with compound heterozygous TSPYL1 variants. These findings expand the phenotypic spectrum of SIDDT by reporting progressive epilepsy and severe EE as a possible outcome. This information may help in managing patients with SIDDT.
Identifiants
pubmed: 36082874
doi: 10.1002/ajmg.a.62966
doi:
Substances chimiques
TSPYL1 protein, human
0
Nuclear Proteins
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3540-3545Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
Buyse, G., Di Michele, M., Wijgaerts, A., Louwette, S., Wittevrongel, C., Thys, C., Downes, K., Ceulemans, B., Van Esch, H., Van Geet, C., & Freson, K. (2020). Unravelling the disease mechanism for TSPYL1 deficiency. Human Molecular Genetics, 29(20), 3431-3442. https://doi.org/10.1093/hmg/ddaa233
Grasberger, H., & Bell, G. I. (2005). Subcellular recruitment by TSG118 and TSPYL implicates a role for zinc finger protein 106 in a novel developmental pathway. The International Journal of Biochemistry & Cell Biology, 37(7), 1421-1437. https://doi.org/10.1016/j.biocel.2005.01.013
Hering, R., Frade-Martinez, R., Bajanowski, T., Poets, C. F., Tschentscher, F., & Riess, O. (2006). Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 8(1), 55-58. https://doi.org/10.1097/01.gim.0000195898.15290.03
Monies, D., Abouelhoda, M., Assoum, M., Moghrabi, N., Rafiullah, R., Almontashiri, N., Alowain, M., Alzaidan, H., Alsayed, M., Subhani, S., Cupler, E., Faden, M., Alhashem, A., Qari, A., Chedrawi, A., Aldhalaan, H., Kurdi, W., Khan, S., Rahbeeni, Z., … Alkuraya, F. S. (2019). Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. American Journal of Human Genetics, 104(6), 1182-1201. https://doi.org/10.1016/j.ajhg.2019.04.011
Nambot, S., Thevenon, J., Kuentz, P., Duffourd, Y., Tisserant, E., Bruel, A. L., Mosca-Boidron, A. L., Masurel-Paulet, A., Lehalle, D., Jean-Marçais, N., Lefebvre, M., Vabres, P., El Chehadeh-Djebbar, S., Philippe, C., Tran Mau-Them, F., St-Onge, J., Jouan, T., Chevarin, M., Poé, C., … Orphanomix Physicians' Group. (2018). Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: Substantial interest of prospective annual reanalysis. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 20(6), 645-654. https://doi.org/10.1038/gim.2017.162
Puffenberger, E. G., Hu-Lince, D., Parod, J. M., Craig, D. W., Dobrin, S. E., Conway, A. R., Donarum, E. A., Strauss, K. A., Dunckley, T., Cardenas, J. F., Melmed, K. R., Wright, C. A., Liang, W., Stafford, P., Flynn, C. R., Morton, D. H., & Stephan, D. A. (2004). Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proceedings of the National Academy of Sciences of the United States of America, 101(32), 11689-11694. https://doi.org/10.1073/pnas.0401194101
Qin, S., Eugene, A. R., Liu, D., Zhang, L., Neavin, D., Biernacka, J. M., Yu, J., Weinshilboum, R. M., & Wang, L. (2020). Dual roles for the TSPYL family in mediating serotonin transport and the metabolism of selective serotonin reuptake inhibitors in patients with major depressive disorder. Clinical Pharmacology and Therapeutics, 107(3), 662-670. https://doi.org/10.1002/cpt.1692
Qin, S., Liu, D., Kohli, M., Wang, L., Vedell, P. T., Hillman, D. W., Niu, N., Yu, J., Weinshilboum, R. M., & Wang, L. (2018). TSPYL family regulates CYP17A1 and CYP3A4 expression: Potential mechanism contributing to abiraterone response in metastatic castration-resistant prostate cancer. Clinical Pharmacology and Therapeutics, 104(1), 201-210. https://doi.org/10.1002/cpt.907
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H. L., & ACMG Laboratory Quality Assurance Committee. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 17(5), 405-424. https://doi.org/10.1038/gim.2015.30
Schubert, S., Haas, C., Bartsch, C., Mirshekarnejad, M., Kohrs, S., Roettinger, I., Grosshennig, A., Stuhrmann, M., Scholz, C., & Schmidtke, J. (2015). Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland. Molecular and Cellular Probes, 29(1), 31-34. https://doi.org/10.1016/j.mcp.2014.10.006
Slater, B., Glinton, K., Dai, H., Lay, E., Karaviti, L., Mizerik, E., Murali, C. N., Lalani, S. R., Bacino, C. A., & Rossetti, L. Z. (2020). Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. American Journal of Medical Genetics. Part A, 182(11), 2751-2754. https://doi.org/10.1002/ajmg.a.61842
Vinci, G., Brauner, R., Tar, A., Rouba, H., Sheth, J., Sheth, F., Ravel, C., McElreavey, K., & Bashamboo, A. (2009). Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertility and Sterility, 92(4), 1347-1350. https://doi.org/10.1016/j.fertnstert.2009.04.009