Table 1 Reports of gross deletion of CDC73
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 |