Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report

Murugan Sudhakar; Madhubala Sharma; Sasidaran Kandasamy; Anjani Gummadi; Amit Rawat; Pandiarajan Vignesh

doi:10.1016/j.ejmg.2022.104498

Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report

Eur J Med Genet. 2022 May;65(5):104498. doi: 10.1016/j.ejmg.2022.104498. Epub 2022 Apr 6.

Authors

Murugan Sudhakar¹, Madhubala Sharma¹, Sasidaran Kandasamy², Anjani Gummadi¹, Amit Rawat¹, Pandiarajan Vignesh³

Affiliations

¹ Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
² Pediatric Intensive Care Unit, Mehta Multispecialty Hospital, Chennai, India.
³ Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India. Electronic address: vigimmc@gmail.com.

PMID: 35395429
DOI: 10.1016/j.ejmg.2022.104498

Abstract

Ghosal hematodiaphyseal dysplasia (GHDD) is a rare, autosomal recessive condition characterised by diaphyseal dysplasia of long bones with defective haematopoiesis. We describe 2 such cases with clinical and radiological evidence of GHDD. Molecular analysis revealed novel variants in TBXAS1 gene in both of them. Suspicion and confirmation of this entity is crucial in cases of refractory anemia with bony deformities, as the clinical manifestations in this entity are usually well responsive to corticosteroids.

Keywords: Anemia; Corticosteroids; Ghosal hematodiaphyseal dysplasia; TBXAS1.

MeSH terms

Anemia, Refractory* / diagnostic imaging
Anemia, Refractory* / genetics
Bone and Bones
Child
Humans
Osteochondrodysplasias* / diagnostic imaging
Osteochondrodysplasias* / genetics
Radiography

Supplementary concepts

Ghosal Hematodiaphyseal Dysplasia