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Table 1 Clinical and molecular characteristics of the PHP patients enrolled in the genome-wide DNA methylation study

From: Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

1. Clinical characteristics 2. Initial diagnostic screening 3. HM450k
Patient Gender PTH-res TSH-res Ca ↓ P ↑ OS BD Additional features STX16 LAB Label NESP AS XL A/B NESP AS1 AS2 XL A/B
1 F Yes Yes Yes Yes No No Two café-au-lait spots, autoimmune thyroiditis   4 Full PHP1B—broad 94 7 27 3 90** 10** 8** 34* 13**
2* M Yes Yes Yes Yes No No   3 Full PHP1B—broad 80 7 8 2 89** 10** 8** 6** 12**
3 M Yes   Yes Yes No No Von Willebrand disease 5 Full PHP1B—broad 88 4 6 0 88** 10** 8** 7** 13**
4* M Yes No Yes Yes No No   1 Full PHP1B—broad 92   8 7 89** 10** 8** 7** 13**
5* M Yes No Yes Yes No No   3 Full PHP1B—broad 82 7 8 2 89** 9** 8** 7** 12**
6 F Yes No Yes Yes No No   1 Full PHP1B—broad 92   10 9 89** 9** 7** 5** 12**
7 M Yes No Yes Yes No No Bilateral cryptorchidism, osteopenia of hands, behavior problems 4 Full PHP1B—broad 95 5 4 3 89** 9** 8** 5** 12**
8* F Yes   Yes No No Yes   5 Full PHP1B—broad 90 3 4 0 89** 10** 8** 6** 12**
9 F Yes Yes Yes No   No Enchondromatosis 5 Partial PHP1B—broad 83 23 34 33 63 27 23 24* 35
10 F Yes No Yes Yes No Yes Exostosis 4 Partial PHP1B—broad 84 20 24 13 75* 22* 16** 33* 31
11 F Yes        5 Partial PHP1B—broad 80 10 27 14 78* 23* 19* 34* 28
12* M Yes Yes Yes No No No Severe hypertension with organ damage, hypercalciuria 3 Full PHP1B—broad 77 8 8 3 75* 12** 8** 7** 17**
13* F Yes Yes Yes Yes No Yes   3 Partial PHP1A—broad 76 8 7 5 73* 15** 9** 5** 21*
14* M Yes Yes Yes No No No   3 Partial PHP1B—broad 80 10 19 29 76* 19** 13** 30* 21*
15 F Yes Yes Yes Yes Yes No Langerhans cell histiocytosis, neonatal hydrocephaly, sessile exostosis 4 Partial PHP1A—broad 86 18 18 7 81** 18** 15** 32* 21*
16 F Yes Yes Yes Yes No No Fahr’s syndrome (calcifications of basal ganglia), autoimmune thyroiditis 4 Partial PHP1B—broad 91 12 30 7 85** 17** 16** 43 21*
17 F Yes No Yes No No No   ΔSTX16 3 PHP1B—A/B only 42 36 44 6 46 36 16** 45 14**
18* F Yes Yes No No     ΔSTX16 2 PHP1B—A/B only - - - 4 50 37 14** 47 14**
19 M Yes Yes Yes Yes Yes No Calcifications of basal ganglia ΔSTX16 4 PHP1B—A/B only 49 42 52 3 50 41 18** 48 15**
20 F Yes No Yes Yes No Yes   ΔSTX16 1 PHP1B—A/B only 39 - 36 10 50 40 16** 50 15**
21 M Yes Yes No Yes     ΔSTX16 2 PHP1B—A/B only - - - 4 52 41 16** 51 13**
22 M Yes No Yes No No No   ΔSTX16 1 PHP1B—A/B only 29 - 38 14 53 42 14** 51 14**
23* F Yes No Yes Yes No No    3 Partial PHP1B—broad 54 26 30 7 55 36 26 40 41
24 M Yes No Yes Yes No No Severe osteopenia without ossifications   5 Partial PHP1B—broad 70 35 46 44 57 39 34 41 43
  50 ± 7 46 ± 7 39 ± 7 50 ± 4 51 ± 9
  1. From left to right: (1) clinical characteristics; (2) mean methylation values of GNAS studies that were performed previously by five different European centers as described in Fig. 1; and (3) mean methylation values of GNAS investigated with HM450k. Ordering of the patients according to unsupervised hierarchical clustering of GNAS methylation investigated with HM450k. Patients* have methylation changes at imprinted genes other than GNAS. Methylation values are presented as percentage. Mean ± SD of the 20 controls from the HM450k array is shown below the HM450k columns
  2. BD brachydactyly, Ca calcium, F female, LAB laboratory of initial diagnostic screening, annotation as shown in Fig. 1, M male, OS heterotopic ossifications, P phosphate, PTH-res parathyroid hormone resistance, TSH-res thyroid-stimulating hormone resistance, ΔSTX16 patients with underlying STX16 deletion
  3. *Methylation < or >3SD outside the mean of the controls
  4. **Methylation < or >3SD outside the mean of the controls and <0.20 or >0.80 absolute methylation
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