RT Journal Article
SR Electronic
T1 Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 440
OP 442
DO 10.1136/jcp.2005.026369
VO 59
IS 4
A1 Campagnoli, M F
A1 Pucci, A
A1 Garelli, E
A1 Carando, A
A1 Defilippi, C
A1 Lala, R
A1 Ingrosso, G
A1 Dianzani, I
A1 Forni, M
A1 Ramenghi, U
YR 2006
UL http://jcp.bmj.com/content/59/4/440.abstract
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.