Radio-Tartaglia Syndrome: A Rare Cause of Delay in Neurodevelopment – A Case Report

Document Type : Case Report

Authors

1 Research Organization in Cellular Therapy and Metabolism, Facultad de Medicina, Universidad de La Sabana, Chía, Cundinamarca.

2 Medical Genetics Unit, Metropolitan Polyclinic, Caracas, Venezuela

3 Universidad de la Sabana, School of Medicine, Colombia.

10.22038/ijn.2024.76155.2473

Abstract

Background: Radio-Tartaglia syndrome or RATARS is an unfamiliar disease caused by a heterozygous mutation of the SPEN gen in the 1p36 chromosome. Clinically, it is represented by global developmental delay and intellectual disability; however, it can also be associated with other relevant comorbidities that embark on the cardiovascular, gastrointestinal, musculoskeletal, integumentary as well as endocrinological systems.
Case Report: A 3-year-old pediatric male patient from Venezuela is referred to genetic counseling due to neurodevelopmental delay, microcephaly and dysmorphisms. The initial diagnostic impression consisted of Williams syndrome. Further studies revealed mild supravalvular stenosis, but no important changes in brain imaging or laboratory analysis. The patient’s diagnosis was later replaced with RATARS after a complete exome sequencing revealed heterozygous SPEN pathogenic genes.
Conclusion: The diagnostic process of RATARS must become a pillar of further investigation given its uncertainty when clinically diagnosed hence the necessity of a clear confirmation through exome sequencing. This case report highlights the importance of genetic testing in patients with neurodevelopmental delay due to a possible but uncommon correlation with rare diseases such as RATARS.
 

Keywords

References

  1. Scott D, Jordan V, Zaveri H. 1p36 deletion syndrome: an update. Appl Clin Genet. 2015;189.
  2. National Center for Biotechnology Information. Radio-Tartaglia Syndrome (Concept Id: C5543339) - MedGen - NCBI. available at: https://www.ncbi. nlm.nih.gov/medgen/1778557.
  3. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {619312}: {05/10/2021}: available at: https://omim.org/
  4. Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021;108(3):502-516.
  5. Ma M, Moulton MJ, Lu S, Bellen HJ. 'Fly-ing' from rare to common neurodegenerative disease mechanisms. Trends Genet. 2022;38(9):972-984.
  6. National Library of Medicine. SPEN: spen family transcriptional repressor [Homo sapiens (human)]. National Library of Medicine. 2023.
  7. Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, et al. Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. Brain Dev. 2015;37(5):515–526.
  8. Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, et al. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121(2):404–10.
  9. Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: A matching tool for connecting investigators with an interest in the same gene. Hum Mutat. 2015;36(10):928–930.
  10. Firth H v., Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet. 2009;84(4):524-533
  11. Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010;362(3):239-52.
  12. Síndrome de williams genetic and rare diseases information center. US. Department of Health and Human Services. Available at: https://rarediseases. info.nih.gov/espanol/13102/sindrome-de-williams (Accessed: April 25, 2023).
  13. Stanley TL, Leong A, Pober BR. Growth, body composition, and endocrine issues in Williams syndrome. Curr Opin Endocrinol Diabetes Obes. 2021;28(1):64-74. 
Iranian Journal of Neonatology
Volume 15, Issue 3
July 2024
Pages 60-64

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