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Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.

Abstract：

:Ectopic periarticular calcifications associated with elevated levels of serum phosphate represent the principal clinical features of hyperphosphatemic familial tumoral calcinosis (HFTC), a rare autosomal recessive metabolic disorder. The disease can be caused by recessive mutations in at least two different genes: GalNAc transferase 3 (GALNT3), encoding a glycosyltransferase that initiates mucin-type O-glycosylation, and fibroblast growth factor 23 (FGF23), which encodes a regulator of phosphate circulating levels. In the current study, we performed mutation analyses of the GALNT3 gene in a subject with HFTC and in his relatives. Sequence analyses revealed that the proband was a compound heterozygote for two novel nonsense mutations in exon 4 (Y322X) and in exon 7 (Q481X). Cosegregation of the mutations with the disease within the family was confirmed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis. This is the first report describing the simultaneous presence of two different stop codons in the coding sequence of the GALNT3 gene.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Barbieri AM,Filopanti M,Bua G,Beck-Peccoz P

doi

10.1007/s10038-007-0126-5

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

464-468

issue

5

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-007-0126-5

journal_volume

52

pub_type

杂志文章

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