A novel ASXL1 variant in a case with Bohring-Opitz Syndrome

Authors

  • Mohammed Najmuddin, MD The Wright Center for Graduate Medical Education, Scranton
  • Peter Iskander The Wright Center for Graduate Medical Education, Scranton
  • Lakshmi Pappoppula, MD The Wright Center for Graduate Medical Education, Scranton
  • Sanya Badar, MD The Wright Center for Graduate Medical Education, Scranton
  • Tasnim Shams, MD The Wright Center for Graduate Medical Education, Scranton
  • Anthony Iskander, MD Xavier University School of Medicine Aruba

Keywords:

ASXL1, genetic counseling, gene mutation

Abstract

Abstract:
We report a case of a child born with features consistent with Bohring-Opitz syndrome, an extremely rare genetic disorder, confirmed by genetic analysis. As with other previously documented cases, the patient ultimately required tracheostomy and percutaneous endoscopic gastrostomy for support. Whole exome sequencing was performed, on himself and parents, and a novel de novo variant, NM_015338.6:c.1180dup (p.R394Pfs*16), in the Additional Sex Combs-Like (ASXL1) gene was identified in the patient. 

References

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Published

2023-12-29

How to Cite

Najmuddin, M., Iskander, P., Pappoppula, L., Badar, S., Shams, T., & Iskander, A. (2023). A novel ASXL1 variant in a case with Bohring-Opitz Syndrome. The Scholarly Society of America, 2(1), 23–25. Retrieved from http://ssajm-online.org/ojs/index.php/SSAJM/article/view/3

Issue

Vol. 2 No. 1 (2023): Inaugural Issue

Section

Case Reports

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