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Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family

¹ Paediatric Department, University of Turin, Turin, Italy
² Division of Pathological Anatomy, Department of Clinical Pathology, Paediatric Hospital Regina Margherita, Turin
³ Radiology Department, Paediatric Hospital Regina Margherita
⁴ Endocrinology Unit, Paediatric Hospital Regina Margherita
⁵ Orthopaedic Unit, Paediatric Hospital Regina Margherita
⁶ Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy

Correspondence to:
Professor Ugo Ramenghi
Haematology Unit, Paediatric Department, University of Turin, Piazza Polonia 94, Torino 10126, Italy; ugo.ramenghi{at}unito.it
ABSTRACT
Background: Familial tumoral calcinosis (FTC) is a rare autosomal recessive disease characterised by the development of multiple calcified masses in periarticular soft tissues; GALNT3 gene mutations have recently been described in an African American and in a Druse Arab family with FTC.

Objective: To report the clinical and histological features caused by a new GALNT3 mutation in a white family.

Results: Homozygosity for the nonsense mutation Lys463X was found in both affected siblings, who displayed a classic phenotype, the male also having testicular microlithiasis. He is the first subject described with testicular microlithiasis in FTC.

Conclusions: The high testicular expression of GALNT3 suggests that the gene alteration could act locally by causing deposition of calcium, and the testis may be an underestimated site of calcification in FTC. Autoimmune diseases are present in several members of the family. Although immune disorders have been described in FTC, autoimmunity does not segregate with the GALNT3 mutation in this family.

Abbreviations: FTC, familial tumoral calcinosis; ITP, immune thrombocytopenic purpura; TM, testicular microlithiasis

Keywords: tumoral calcinosis; tumoral calcinosis with hyperphosphataemia; testicular microlithiasis; GALNT3

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