Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a tcirg1 gene mutation

Elisabeth Bruder, Thomas Stallmach, Karin Peier, Andrea Superti-Furga, Paolo Vezzoni

Research output: Contribution to journalArticlepeer-review


Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled borders. The post transplant biopsy revealed donor osteoclasts with ruffled borders and intracytoplasmic mineral crystals as proof of active bone resorption that had not yet been detectable radiographically. Osteopetrosis is a genetically heterogenous disease. Definition at the DNA-level will enable comparison of treatment strategies and prenatal diagnosis. As shown in this patient, the autosomal recessive form caused by a TCIRG1 gene mutation may be amenable to bone marrow transplantation. Activity of donor osteoclasts can be demonstrated morphologically on biopsy, before bone remodeling becomes evident radiologically.

Original languageEnglish
Pages (from-to)3-9
Number of pages7
JournalFetal and Pediatric Pathology
Issue number1
Publication statusPublished - 2003


  • ATP6i gene
  • bone marrow transplantation
  • osteoclast
  • osteopetrosis
  • TCIRG1 gene

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health


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