title: Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.
abstract: Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder of the phosphocalcic metabolism caused by mutations in the FGF23 or GALNT3 genes. We have identified a Beninese family in which two brothers present FTC caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of GALNT3 gene. We report on the clinical, biochemical, histopathological and molecular spectrum of the disorder in this family. The particularly severe phenotype, the amelogenesis imperfecta, and the carbapatite deposit observed in these patients, seem to be characteristic of our observations.
authors.affiliation: Unité de Biologie Humaine, Faculté des Sciences de la Santé, Cotonou, Bénin. cytogen@intnet.bj
authors.forename: A
authors.initials: A
authors.lastname: Laleye
authors.forename: M J
authors.initials: MJ
authors.lastname: Alao
authors.forename: G
authors.initials: G
authors.lastname: Gbessi
authors.forename: M
authors.initials: M
authors.lastname: Adjagba
authors.forename: M
authors.initials: M
authors.lastname: Marche
authors.forename: I
authors.initials: I
authors.lastname: Coupry
authors.forename: I
authors.initials: I
authors.lastname: Redonnet-Vernhet
authors.forename: S
authors.initials: S
authors.lastname: Lepreux
authors.forename: B
authors.initials: B
authors.lastname: Ayivi
authors.forename: R B
authors.initials: RB
authors.lastname: Darboux
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: B
authors.initials: B
authors.lastname: Arveiler
mesh_terms: D000293:Adolescent; D000328:Adult; D000567:Amelogenesis Imperfecta / Q000235:genetics / Q000473:pathology; D001031:Apatites / Q000097:blood; D001541:Benin; D044383:Black People / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics* / Q000473:pathology; D000089703:Fibroblast Growth Factor-23; D006801:Humans; D054559:Hyperphosphatemia / Q000235:genetics / Q000473:pathology; D007592:Joint Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D035781:Siblings; D000097763:Polypeptide N-acetylgalactosaminyltransferase
chemical_list: D001031:Apatites; D000089703:Fibroblast Growth Factor-23; D017350:N-Acetylgalactosaminyltransferases; D000097763:Polypeptide N-acetylgalactosaminyltransferase; C000717427:FGF23 protein, human