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Table 3 Patient characteristics

From: The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

Patient ID a Ageb/sex SBDS mutations
1 6/M c.183_184delTAinsCT/c.258 + 2 T > C
2 4/M c.258 + 2 T > C/c.258 + 2 T > C
3 20/F c.183_184delTAinsCT/c.258 + 2 T > C
4 5/M c.183_184delTAinsCT/c.258 + 2 T > C
5 11/M c.170 T > C/258 + 2 T > C
6 14/M c.258 + 2 T > C/c.258 + 2 T > C
7 29/M c.183_184delTAinsCT/c.258 + 2 T > C
8 16/M c.183_184delTAinsCT/c.258 + 2 T > C
9 11, 19/M c.183_184delTAinsCT + 258 + 2 T > C/258 + 2 T > C
10 13, 16/F c.183_184delTAinsCT/c.258 + 2 T > C
11 15/F c.183_184delTAinsCT/c.258 + 2 T > C
12 M c.183_184delTAinsCT/c.258 + 2 T > C
13 13, 14/M c.183_184delTAinsCT + 258 + 2 T > C/c.258 + 2 T > C
14 3, 5/M c.183_184delTAinsCT + 258 + 2 T > C/c.258 + 2 T > C
  1. aPatients 1–8 from the cohort of the North American Shwachman-Diamond Syndrome Registry (SDSR); patients 9–14 from the cohort of the Registro Italiano per la Sindrome di Shwachman-Diamond (RI-SDS)
  2. bAge (years) at time or times of BM sampling