Document Type
Article
Publication Date
9-1-2024
Abstract
Background: Heterozygous pathogenic variants of SPTB cause hereditary spherocytosis (HS) in a quarter of cases. Case report: A 14-day-old male presenting with persistent anemia and hyperbilirubinemia was diagnosed with HS by increased red blood cell osmotic fragility and decreased fluorescence on the eosin-5′-maleimide binding test. For his failure to thrive and hypotonia, genetic sequencing revealed a de novo variant of the SPTB gene (p.Q1034X) on exon 15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. A variant of uncertain significance (p.R438W) in the chondroitin sulfate synthase 1 (CHSY1) gene was incidentally found. Loss of CHSY1 is associated with autosomal recessive Temtamy preaxial brachydactyly syndrome (TPBS). However, this patient's heterozygosity and lack of typical TPBS phenotype make this variant less likely the cause of his symptoms. Conclusion: Further investigation can evaluate a potential link between the patient's presentation and these gene variants.
Recommended Citation
Kugler, Emmalee M.; Patel, Akash; Afridi, Faraz; Scarano, Maria I.; and Ahmed, Rafat, "Hereditary Spherocytosis Due to a Novel Variant, p.Q1034X, in the beta subunit of the spectrin gene: A Case Report" (2024). Department of Emergency Medicine Faculty Papers. Paper 242.
https://jdc.jefferson.edu/emfp/242
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
Language
English
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Emergency Medicine Commons, Genetics and Genomics Commons
Comments
This article is the author's final published version in Pediatric Hematology Oncology Journal, Volume 9, Issue 3, September 2024, Pages 155 - 160.
The published version is available at https://doi.org/10.1016/j.phoj.2024.04.002.
Copyright © 2024 Pediatric Hematology Oncology Chapter of Indian Academy of Pediatrics