Skip to main content

Table 1 Reports of gross deletion of CDC73

From: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

Case # Sex Age (ys) Family history Total calcium (mmol/L) Jaw lesion Kidney lesion Uterine lesion HPT pathology Molecular abnormality Predicted effect Reference
#1 M 25 No 4.4 No No   A Whole gene deletion CDC73 gene loss Domingues et al., 2012
#2 F 18 Yes 3.6 No No No A Whole gene deletion CDC73 gene loss Cascón et al., 2011
#3 M 35 Yes 3.3 Un Yes   A c.237 +?_308–?del ex 3 Exon 3 deletion Bricaire et al., 2013
#4 F 16 Yes 3.1 Yes No No A c.307 +?_513–?del ex 4–6 Exon 4, 5, 6 deletion Bricaire et al., 2013
#5 M 16 No 4.2 No No   A c.512 +?_1155–?del ex 7–13 Exon 7 to 13 deletion Bricaire et al., 2013
#6 M 27 Yes 3.2 No No   A c.131 +?_308-?del ex 2–3 Exon 2 and 3 deletion Bricaire et al., 2013
#7 F 37 No 4.2 Yes Yes No C 1q31.1–1q31.3 del CDC73 gene loss Bricaire et al., 2013
#8 F 43 No 3.1 No No Yes C Whole gene deletion CDC73 gene loss Bricaire et al., 2013
#9 F 20 No Un Yes Yes Yes C Whole gene deletion CDC73 gene loss Bricaire et al., 2013
#10 M 32 Yes Un No No   C c.1-?_972-?del ex 1–10 Exon 1 to 10 deletion Korpi-Hyövälti et al., 2014
#11 F 15 Yes 3.1 No No Yes A c.307 +?_513–?del ex 4–6 Exon 4, 5, 6 deletion Kong et al., 2014
#12 F 8 No 4,1 No No No C c.1-?_131-?del ex 1 Exon 1 deletion Davidson et al., 2015
#13 F 48 Yes 4.2 No No Yes C c.307 +?_972–? del ex 4–10 Exon 4 to 10 deletion This study
  1. C carcinoma, A adenoma, Un unknown