Tumoral calcinosis due to GALNTS3c.516 : mutation in a black african family

Abstract

Summary: Tumora' Calcinosis dlle la GALNT3C516-2A >T mulation in a blackAfricanfamily: Familial Tumoral Caleinosis(FTC) is a rare autosomal reeessive disorder of the phosphocalcie metabolism eaused by mutations in the FGF23 or GALNT3 genes. We have identified a Benincse family in whieh two brothers present FTC caused by a homozygous A> T transversion at the aCcq1tor splice site in intron 1 of GALNf3 gene. Wc report on the elinical, bioehemieal, histopathological and molecular spectrum of the disorder in this farnily. The partieularly severe phenotype, the amelogenesis imperfeeta, and the earbapatitc deposit observed in thesc patients, seem to be eharaetcristie of our observations. . . Key-words: Fainilial Tumoral Calcinosis- Phosphocalcîc metabolism'disorder - CALNH mutation