Journal
INTRACTABLE & RARE DISEASES RESEARCH
Volume 10, Issue 1, Pages 55-57Publisher
INT RESEARCH & COOPERATION ASSOC BIO & SOCIO-SCIENCES ADVANCEMENT
DOI: 10.5582/irdr.2020.03084
Keywords
hyperphosphatemic familial tumoral calcinosis; calcinosis cutis; GALNT3 gene; novel variant; Indian family
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HFTC is an extremely rare autosomal recessive disorder caused by variants in multiple genes, resulting in progressive calcification of soft tissues. A 9-year-old girl and her brother were affected by the disease, while their parents had normal biochemical parameters. A novel variant in the GALNT3 gene was identified through Sanger sequencing.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disorder caused by variants in the GALNT3 (N-acetylgalactosaminyltransferase 3), FGF23 (Fibroblast Growth Factor-23) and alpha KL (alpha-Klotho) genes, which results in progressive calcification of soft tissues. We describe the case of a 9-year-old girl who presented with recurrent hard nodular swellings on her feet and knees which intermittently discharged chalky white material. Her younger brother also had a similar condition. Both siblings showed hyperphosphatemia, but the parents' biochemical parameters were normal. The histological features of the material aspirated from a skin lesion were consistent with tumoral calcinosis. Sanger sequencing identified a novel homozygous non-synonymous sequence variant in exon 10 of the GALNT3 gene (NM_004482.3:c.[1681T>A];[1681T>A], NP_004473.2:p. [Cys561Ser];[Cys561Ser] in the proband and her affected brother. The parents were heterozygous carriers for the same sequence variant. In conclusion, we report a new variant in the GALNT3 gene that caused HFTC in a North Indian family.
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