Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
J Bone Miner Metab
; 29(5): 621-5, 2011 Sep.
Article
em En
| MEDLINE
| ID: mdl-21347749
ABSTRACT
Hyperphosphatemic familial tumoral calcinosis (HFTC) is known to be caused by mutations in at least three genes FGF23, GALNT3 and KL. Two families with two affected members suffering from HFTC were scrutinized for mutations in these candidate genes. We identified in both families homozygous missense mutations affecting highly conserved amino acids in GALNT3. One of the mutations is a novel mutation, whereas the second mutation was reported before in a compound heterozygous state. Our data expand the spectrum of known mutations in GALNT3 and contribute to a better understanding of the phenotypic manifestations of mutations in this gene.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Calcinose
/
N-Acetilgalactosaminiltransferases
/
Hipofosfatemia
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J Bone Miner Metab
Assunto da revista:
METABOLISMO
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Israel