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Case Reports
. 2022 Dec;188(12):3540-3545.
doi: 10.1002/ajmg.a.62966. Epub 2022 Sep 9.

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

Benoit Mazel  1   2   3 , Delphine Mallet  4   5 , Florence Roucher-Boulez  4   5   6 , Candace Ben Signor  7 , Marie Bournez  1 , Véronique Darmency  8 , Valentin Bourgeois  9 , Charlotte Poe  9 , Fares El Khabbaz  10 , Antonio Vitobello  3   9 , Christophe Philippe  3   9 , Yannis Duffourd  3   9 , Christel Thauvin-Robinet  1   2   9 , Laurence Faivre  1   2   9 , Sophie Nambot  1   2   9
Affiliations
Case Reports

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

Benoit Mazel et al. Am J Med Genet A. 2022 Dec.

Abstract

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.

Keywords: TSPYL1; epilepsy; extension phenotype spectrum; review; sudden infant death syndrome.

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REFERENCES

    1. 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
    1. 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
    1. 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
    1. 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
    1. 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

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