Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.
Richa SharmaElizabeth Sierra PotchanantJennifer E SchwartzGrzegorz NalepaPublished in: Pediatric blood & cancer (2017)
Diagnosis of bone marrow failure (BMF) disorders is challenging but essential for optimal patient management. Here, we report a young adult from nonconsanguineous parents with progressive pancytopenia since childhood, bone pain, increased bone density, and haphazard ossification replacing hematopoiesis within the bone marrow. Sequencing revealed two novel biallelic variants of unknown significance within the thromboxane A synthase gene, TBXAS1 (c.266T > C; c.989T > C), bioinformatically predicted to disrupt the protein. TBXAS1 mutations result in Ghosal hematodiaphyseal dysplasia (OMIM 231095), the autosomal recessive syndrome associated with abnormal bone structure and BMF. Identification of the genetic defect prompted steroid therapy leading to resolution of symptoms.
Keyphrases
- bone marrow
- bone mineral density
- soft tissue
- copy number
- bone loss
- young adults
- mesenchymal stem cells
- case report
- chronic pain
- single cell
- intellectual disability
- multiple sclerosis
- postmenopausal women
- depressive symptoms
- pain management
- body composition
- spinal cord
- single molecule
- autism spectrum disorder
- cell therapy