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

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

SUBMITTER: Campagnoli MF 

PROVIDER: S-EPMC1860360 | biostudies-literature | 2006 Apr

REPOSITORIES: biostudies-literature