A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.

ABSTRACT: Aim Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) is an autosomal recessive disorder. This study investigates the etiology of HFTC in offspring from consanguineous parents.

Methods

Clinical assessment, imaging, and direct sequencing were utilized to elucidate the condition. Previously reported cases were also reviewed.

Result

We identified a consanguineous Chinese family with HFTC caused by an interesting homozygous G to A substitution in GALNT3 (c.1626 + 1G > A). The parents were carriers.

Conclusion

This study represents the first report of HFTC in a consanguineous Chinese family due to an interesting GALNT3 mutation. We reviewed known GALNT3 variants and associated clinical features of calcification disorders. The phenotypic difference between h

SUBMITTER: Wu A 

PROVIDER: S-EPMC11342870 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature