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Table 3 Genotype-phenotype correlation at diagnosis

From: Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

Type of mutation

AD

H

P (mg/dl)

TRP (%)

1.25(OH)2D (pg/ml)

25(OH)D (ng/ml)

PTH (pg/ml)

ALP (UI/l)

Deleterious (n = 30)

41.18 ± 33.27 (n = 28)

-2.81 ± 1.23 (n = 24)

2.61 ± 0.45 (n = 24)

61.39 ± 19.76 (n = 22)

40.93 ± 30.73 (n = 16)

41.79 ± 42.05 (n = 14)

45.35 ± 17.61 (n = 20)

943.00 ± 451.18 (n = 22)

Plausible (n = 6)

21.83 ± 18.53 (n = 6)

-1.48 ± 1.80 (n = 6)

2.81 ± 0.67 (n = 6)

80.14 ± 8.80 (n = 5)

78.46 ± 36.27 (n = 6)

43.15 ± 19.13 (n = 6)

59.83 ± 17.76 (n = 6)

1114.16 ± 495.77 (n = 6)

P values

0.08

0.11

0.53

0.028

0.013

0.30

0.06

0.48

  1. AD age at diagnosis (months), H height SDS, P phosphate serum levels, TRP tubular reabsorption of phosphate, 1,25(OH)2D 1,25 dihydroxi vitamin D, 25(OH)D 25 hydroxy vitamin D, PTH parathyroid hormone, ALP alkaline phosphatase. All parameters were assesed at diagnosis