Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.
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.
Campagnoli
M F
MF
Paediatric Department, University of Turin, Turin, Italy.
Pucci
A
A
Garelli
E
E
Carando
A
A
Defilippi
C
C
Lala
R
R
Ingrosso
G
G
Dianzani
I
I
Forni
M
M
Ramenghi
U
U
D001327:Autoimmune Diseases / Q000235:genetics / Q000378:metabolism; D002114:Calcinosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002648:Child; D018389:Codon, Nonsense; D006801:Humans; D007558:Italy; D020347:Lithiasis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D013733:Testicular Diseases / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D044465:White People; D000097763:Polypeptide N-acetylgalactosaminyltransferase
D018389:Codon, Nonsense; D017350:N-Acetylgalactosaminyltransferases; D009363:Neoplasm Proteins; D000097763:Polypeptide N-acetylgalactosaminyltransferase