Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency
2
Issued Date
2024-12-01
Resource Type
ISSN
10983600
eISSN
15300366
Scopus ID
2-s2.0-85207639558
Pubmed ID
39315526
Journal Title
Genetics in Medicine
Volume
26
Issue
12
Rights Holder(s)
SCOPUS
Bibliographic Citation
Genetics in Medicine Vol.26 No.12 (2024)
Suggested Citation
Stoupa A., Franca M.M., Abdulhadi-Atwan M., Fujisawa H., Korwutthikulrangsri M., Marchand I., Polak G., Beltrand J., Polak M., Kariyawasam D., Liao X.H., Raimondi C., Steigerwald C., Abreu N.J., Bauer A.J., Carré A., Taneja C., Mekhoubad A.B., Dumitrescu A.M. Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency. Genetics in Medicine Vol.26 No.12 (2024). doi:10.1016/j.gim.2024.101280 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/101890
Title
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency
Author's Affiliation
Northwell Health System
Université Paris Cité
Donald and Barbara Zucker School of Medicine at Hofstra/Northwell
Institut Cochin
The Children's Hospital of Philadelphia
The University of Chicago
Department of Medicine, The University of Chicago
Fujita Health University
Hôpital Necker Enfants Malades
NYU Grossman School of Medicine
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Centre Hospitalier Intercommunal Creteil
Palestine Red Crescent Society Hospital
Centre régional de dépistage néonatal (CRDN) Ile de France
Advocate Children's Hospital
Université Paris Cité
Donald and Barbara Zucker School of Medicine at Hofstra/Northwell
Institut Cochin
The Children's Hospital of Philadelphia
The University of Chicago
Department of Medicine, The University of Chicago
Fujita Health University
Hôpital Necker Enfants Malades
NYU Grossman School of Medicine
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Centre Hospitalier Intercommunal Creteil
Palestine Red Crescent Society Hospital
Centre régional de dépistage néonatal (CRDN) Ile de France
Advocate Children's Hospital
Corresponding Author(s)
Other Contributor(s)
Abstract
Purpose: Defects in the gene encoding selenocysteine insertion sequence binding protein 2, SECISBP2, result in global impaired selenoprotein synthesis manifesting a complex syndrome with characteristic serum thyroid function tests due to impaired thyroid hormone metabolism. Knowledge about this multisystemic defect remains limited. Methods: Genetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive. Results: Four probands presented a complex neurodevelopmental profile, including absent speech, autistic features, and seizures. Pediatric neurological evaluation prompted genetic investigations leading to the identification of SECISBP2 variants before knowing the characteristic thyroid tests in 2 cases. Thyroid hormone treatment improved motor development, whereas speech and intellectual impairments persisted. This defect poses great diagnostic and treatment challenges for clinicians, as illustrated by a case that escaped detection for 20 years because SECISBP2 was not included in the neurodevelopmental genetic panel, and his complex thyroid status prompted antithyroid treatment instead. Conclusion: This syndrome uncovers the role of selenoproteins in humans. The severe neurodevelopmental disabilities manifested in 4 patients with SECISBP2 deficiency highlight an additional phenotype in this multisystem disorder. Early diagnosis and treatment are required, and long-term evaluation will determine the full spectrum of manifestations and the impact of therapy.