A novel homozygous variant in exon 10 of the &lt;i&gt;GALNT3&lt;/i&gt; gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India

Dayal, Devi; Gupta, Shruti; Kumar, Rakesh; Srinivasan, Radhika; Lorenz‐Depiereux, Bettina; Strom, Tim M.

doi:10.5582/irdr.2020.03084

Cited by 4 publications

(1 citation statement)

References 9 publications

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“…To our knowledge, this is the first report of a GALNT3 variant in Japan. Furthermore, GALNT3 are typically missense homozygous variants rather than compound heterozygotes (1,8,(10)(11)(12). Our findings confirmed the deletion of exon 11, indicating that the identified GALNT3 mRNA variant is pathogenic.…”

Section: Discussionsupporting

confidence: 79%

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <i>GALNT3</i> variant

Nishimura-Kinoshita

Ohata

Sawai

et al. 2023

Clin Pediatr Endocrinol

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Section: Discussionsupporting

confidence: 79%

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <i>GALNT3</i> variant

Nishimura-Kinoshita

Ohata

Sawai

et al. 2023

Clin Pediatr Endocrinol

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Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism

Hassan

Gregson

Tang

et al. 2020

Journal of Bone and Mineral Research

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Anabolic treatment options for osteoporosis remain limited. One approach to discovering novel anabolic drug targets is to identify genetic causes of extreme high bone mass (HBM). We investigated a pedigree with unexplained HBM within the UK HBM study, a national cohort of probands with HBM and their relatives. Whole exome sequencing (WES) in a family with HBM identified a rare heterozygous missense variant (NM_004482.4:c.1657C > T, p.Arg553Trp) in GALNT3, segregating appropriately. Interrogation of data from the UK HBM study and the Anglo-Australasian Osteoporosis Genetics Consortium (AOGC) revealed an unrelated individual with HBM with another rare heterozygous variant (NM_004482.4:c.831 T > A, p.Asp277Glu) within the same gene. In silico protein modeling predicted that p.Arg553Trp would disrupt salt-bridge interactions, causing instability of GALNT3, and that p.Asp277Glu would disrupt manganese binding and consequently GALNT3 catalytic function. Bi-allelic loss-of-function GALNT3 mutations alter FGF23 metabolism, resulting in hyperphosphatemia and causing familial tumoral calcinosis (FTC). However, bone mineral density (BMD) in FTC cases, when reported, has been either normal or low. Common variants in the GALNT3 locus show genome-wide significant associations with lumbar, femoral neck, and total body BMD. However, no significant associations with BMD are observed at lociThis is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Tumoral calcinosis of the knee treated with open, physeal sparing iliotibial band ACL reconstruction

Ryan,

Sprowls,

Ward

et al. 2023

The Knee

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A novel homozygous variant in exon 10 of the <i>GALNT3</i> gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India

Cited by 4 publications

References 9 publications

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <i>GALNT3</i> variant

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <i>GALNT3</i> variant

Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism

Tumoral calcinosis of the knee treated with open, physeal sparing iliotibial band ACL reconstruction

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