PT  - JOURNAL ARTICLE
AU  - M F Campagnoli
AU  - A Pucci
AU  - E Garelli
AU  - A Carando
AU  - C Defilippi
AU  - R Lala
AU  - G Ingrosso
AU  - I Dianzani
AU  - M Forni
AU  - U Ramenghi
TI  - Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family
AID  - 10.1136/jcp.2005.026369
DP  - 2006 Apr 01
TA  - Journal of Clinical Pathology
PG  - 440--442
VI  - 59
IP  - 4
4099  - http://jcp.bmj.com/content/59/4/440.short
4100  - http://jcp.bmj.com/content/59/4/440.full
SO  - J Clin Pathol2006 Apr 01; 59
AB  - 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.