Overview of the Clinical and Molecular Characteristics of 12 Index CDC73 Mutation Carriers and Their Tested Relatives
| ID . | Sex . | Tumors Observed (Age at Detection, y) . | Family History . | Phenotype . | Germline CDC73 Variant . | Tested Relatives . | Nonindex Carriers (Symptomatic) . | Not Tested Symptomatic Relatives . |
|---|---|---|---|---|---|---|---|---|
| A | M | PA (54) | pHPT | FIHP | c.226C>T, p.(Arg76*) | 6 | 2 (1) | 2 |
| B | M | PC (54), RCC (57) | Negative | sPC | c.544dup, p.(Ile182Asnfs*11) | 3 | 1 (0) | 0 |
| C | F | PA (17) | pHPT | FIHP | c.358C>T, p.(Arg120*) | 1 | 1 (1) | 1 |
| Da | M | PA (34) | pHPT, renal cysts | Suspected HPT-JT syndrome | c.687_688dellAG, p.(Arg229Serfs*37) | 37 | 24 (14) | 2 |
| E | M | Jaw (15), PA (22) | pHPT, Wilms tumor | HPT-JT syndrome | c.3_15dup, p.(Ser6Glyfs*5) | 3 | 3 (3) | 0 |
| F | M | PA (13) | Negative | sPA | Whole gene deletion | 4 | 2 (0) | 0 |
| G | M | PC (45) | pHPT | FIHP | Whole gene deletion | 9 | 4 (2) | 0 |
| H | M | Wilms tumor (8), PA (33) | pHPT, uterine fibroids | FIHP | c.3_15dup, p.(Ser6Glyfs*5) | 3 | 1 (1) | 0 |
| I | M | PC (18) | Negative | sPC | Exon 1 deletion | 0 | 0 | |
| J | M | PA (40) | pHPT | FIHP | Exon 1 deletion | 2 | 1 (1) | 1 |
| K | M | PA (25) | pHPT | FIHP | c.685_688delAGAG, p.(Arg229Tyrfs*27) | 0 | 2 | |
| L | M | PA (40) | pHPT, jaw | HPT-JT syndrome | c.760C>T, p.(Gln254*) | 8 | 4 (1) | 0 |
| ID . | Sex . | Tumors Observed (Age at Detection, y) . | Family History . | Phenotype . | Germline CDC73 Variant . | Tested Relatives . | Nonindex Carriers (Symptomatic) . | Not Tested Symptomatic Relatives . |
|---|---|---|---|---|---|---|---|---|
| A | M | PA (54) | pHPT | FIHP | c.226C>T, p.(Arg76*) | 6 | 2 (1) | 2 |
| B | M | PC (54), RCC (57) | Negative | sPC | c.544dup, p.(Ile182Asnfs*11) | 3 | 1 (0) | 0 |
| C | F | PA (17) | pHPT | FIHP | c.358C>T, p.(Arg120*) | 1 | 1 (1) | 1 |
| Da | M | PA (34) | pHPT, renal cysts | Suspected HPT-JT syndrome | c.687_688dellAG, p.(Arg229Serfs*37) | 37 | 24 (14) | 2 |
| E | M | Jaw (15), PA (22) | pHPT, Wilms tumor | HPT-JT syndrome | c.3_15dup, p.(Ser6Glyfs*5) | 3 | 3 (3) | 0 |
| F | M | PA (13) | Negative | sPA | Whole gene deletion | 4 | 2 (0) | 0 |
| G | M | PC (45) | pHPT | FIHP | Whole gene deletion | 9 | 4 (2) | 0 |
| H | M | Wilms tumor (8), PA (33) | pHPT, uterine fibroids | FIHP | c.3_15dup, p.(Ser6Glyfs*5) | 3 | 1 (1) | 0 |
| I | M | PC (18) | Negative | sPC | Exon 1 deletion | 0 | 0 | |
| J | M | PA (40) | pHPT | FIHP | Exon 1 deletion | 2 | 1 (1) | 1 |
| K | M | PA (25) | pHPT | FIHP | c.685_688delAGAG, p.(Arg229Tyrfs*27) | 0 | 2 | |
| L | M | PA (40) | pHPT, jaw | HPT-JT syndrome | c.760C>T, p.(Gln254*) | 8 | 4 (1) | 0 |
Abbreviations: F, female; jaw, ossifying fibroma jaw; M, male.
Published previously in Haven CJ, Wong FK, van Dam EW, van der Juijt R, van Asperen C, Jansen J, Rosenberg C, de Wit M, Roijers J, Hoppener J, Lips CJ, Larsson C, Teh BT, Morreau H. A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism–jaw tumor syndrome. J Clin Endocrinol Metab. 2000;85:1449–1454.
Overview of the Clinical and Molecular Characteristics of 12 Index CDC73 Mutation Carriers and Their Tested Relatives
| ID . | Sex . | Tumors Observed (Age at Detection, y) . | Family History . | Phenotype . | Germline CDC73 Variant . | Tested Relatives . | Nonindex Carriers (Symptomatic) . | Not Tested Symptomatic Relatives . |
|---|---|---|---|---|---|---|---|---|
| A | M | PA (54) | pHPT | FIHP | c.226C>T, p.(Arg76*) | 6 | 2 (1) | 2 |
| B | M | PC (54), RCC (57) | Negative | sPC | c.544dup, p.(Ile182Asnfs*11) | 3 | 1 (0) | 0 |
| C | F | PA (17) | pHPT | FIHP | c.358C>T, p.(Arg120*) | 1 | 1 (1) | 1 |
| Da | M | PA (34) | pHPT, renal cysts | Suspected HPT-JT syndrome | c.687_688dellAG, p.(Arg229Serfs*37) | 37 | 24 (14) | 2 |
| E | M | Jaw (15), PA (22) | pHPT, Wilms tumor | HPT-JT syndrome | c.3_15dup, p.(Ser6Glyfs*5) | 3 | 3 (3) | 0 |
| F | M | PA (13) | Negative | sPA | Whole gene deletion | 4 | 2 (0) | 0 |
| G | M | PC (45) | pHPT | FIHP | Whole gene deletion | 9 | 4 (2) | 0 |
| H | M | Wilms tumor (8), PA (33) | pHPT, uterine fibroids | FIHP | c.3_15dup, p.(Ser6Glyfs*5) | 3 | 1 (1) | 0 |
| I | M | PC (18) | Negative | sPC | Exon 1 deletion | 0 | 0 | |
| J | M | PA (40) | pHPT | FIHP | Exon 1 deletion | 2 | 1 (1) | 1 |
| K | M | PA (25) | pHPT | FIHP | c.685_688delAGAG, p.(Arg229Tyrfs*27) | 0 | 2 | |
| L | M | PA (40) | pHPT, jaw | HPT-JT syndrome | c.760C>T, p.(Gln254*) | 8 | 4 (1) | 0 |
| ID . | Sex . | Tumors Observed (Age at Detection, y) . | Family History . | Phenotype . | Germline CDC73 Variant . | Tested Relatives . | Nonindex Carriers (Symptomatic) . | Not Tested Symptomatic Relatives . |
|---|---|---|---|---|---|---|---|---|
| A | M | PA (54) | pHPT | FIHP | c.226C>T, p.(Arg76*) | 6 | 2 (1) | 2 |
| B | M | PC (54), RCC (57) | Negative | sPC | c.544dup, p.(Ile182Asnfs*11) | 3 | 1 (0) | 0 |
| C | F | PA (17) | pHPT | FIHP | c.358C>T, p.(Arg120*) | 1 | 1 (1) | 1 |
| Da | M | PA (34) | pHPT, renal cysts | Suspected HPT-JT syndrome | c.687_688dellAG, p.(Arg229Serfs*37) | 37 | 24 (14) | 2 |
| E | M | Jaw (15), PA (22) | pHPT, Wilms tumor | HPT-JT syndrome | c.3_15dup, p.(Ser6Glyfs*5) | 3 | 3 (3) | 0 |
| F | M | PA (13) | Negative | sPA | Whole gene deletion | 4 | 2 (0) | 0 |
| G | M | PC (45) | pHPT | FIHP | Whole gene deletion | 9 | 4 (2) | 0 |
| H | M | Wilms tumor (8), PA (33) | pHPT, uterine fibroids | FIHP | c.3_15dup, p.(Ser6Glyfs*5) | 3 | 1 (1) | 0 |
| I | M | PC (18) | Negative | sPC | Exon 1 deletion | 0 | 0 | |
| J | M | PA (40) | pHPT | FIHP | Exon 1 deletion | 2 | 1 (1) | 1 |
| K | M | PA (25) | pHPT | FIHP | c.685_688delAGAG, p.(Arg229Tyrfs*27) | 0 | 2 | |
| L | M | PA (40) | pHPT, jaw | HPT-JT syndrome | c.760C>T, p.(Gln254*) | 8 | 4 (1) | 0 |
Abbreviations: F, female; jaw, ossifying fibroma jaw; M, male.
Published previously in Haven CJ, Wong FK, van Dam EW, van der Juijt R, van Asperen C, Jansen J, Rosenberg C, de Wit M, Roijers J, Hoppener J, Lips CJ, Larsson C, Teh BT, Morreau H. A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism–jaw tumor syndrome. J Clin Endocrinol Metab. 2000;85:1449–1454.
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