BACKGROUND: Partial duplication of 2p is a rare condition that causes @entity154 , @entity1155 , and @entity851 . Hypercalcaemia is rare in @entity1 . So far, duplication of 2p has never been associated with hypercalcaemia. METHODS: Here, we report a @entity1 with a partial duplication of 2p presenting with moderate to severe hypercalcaemia at the age of 2 years. She also had @entity5200 , @entity11604 , @entity177 , and secondary @entity2742 at presentation. She was thoroughly investigated, including genetic testing of the @entity29381 , @entity1631 , ALPL, and @entity6820 genes, to determine the cause of hypercalcaemia. RESULTS: @entity10692 levels were increased. Hypercalcaemia and @entity5200 responded well to glucocorticoids but not to @entity4046 . @entity2742 resolved with improving renal function. Apart from the known duplication of 2p, no pathogenic variants were detected in the studied genes. The duplication of 2p contains the @entity60516 gene, which encodes for the @entity60516 subunit. CONCLUSION: We conclude that partial duplication of 2p can be associated with hypercalcaemia and @entity5200 and hypothesise that the underlying mechanism is an increased extra-renal, parathyroid hormone-independent @entity14257 1a-hydroxylase activity, leading to raised amounts of @entity10692 . The increased enzymatic activity could possibly be caused by @entity60516 subunit-related macrophage stimulation.

Hypercalcaemia in a XXXX with 2p13.2-p16.1 Duplication.

@entity1 :: ('9606', 'Species') :: ['children', 'girl'] @entity154 :: ('MESH:D000013', 'Disease') :: ['facial anomalies'] @entity1631 :: ('846', 'Gene') :: ['CASR'] @entity851 :: ('MESH:D006130', 'Disease') :: ['growth failure'] @entity10692 :: ('MESH:C097949', 'Chemical') :: ['1,25-dihydroxyvitamin D'] @entity60516 :: ('5534', 'Gene') :: ['PPP3R1', 'calcineurin B'] @entity29381 :: ('1591', 'Gene') :: ['CYP24A1'] @entity11604 :: ('MESH:D009397', 'Disease') :: ['nephrocalcinosis'] @entity177 :: ('MESH:D051437', 'Disease') :: ['decreased renal function'] @entity6820 :: ('64127', 'Gene') :: ['NOD2'] @entity4046 :: ('MESH:C476217', 'Chemical') :: ['cinacalcet'] @entity1155 :: ('MESH:D011596', 'Disease') :: ['psychomotor delay'] @entity14257 :: ('MESH:C104450', 'Chemical') :: ['25-hydroxyvitamin D'] @entity5200 :: ('MESH:D053565', 'Disease') :: ['hypercalciuria'] @entity2742 :: ('MESH:D006961', 'Disease') :: ['hyperparathyroidism', 'Hyperparathyroidism']
@entity1 :: (9606,Species) :: ['Patient']
