Table 3.
MKRN3 mutations identified in boys with CPP
| Family No. | Origin | MKRN3 mutation | Location of MKRN3 mutation in the protein | Affected boys, n | Age at pubertal onset, years | Reference | |
|---|---|---|---|---|---|---|---|
| DNA | protein | ||||||
| 1 | Brazil | 475_476insC | Ala162Glyfs*14 | N-terminal | 2 | 5.9 Unknown | 17 |
| 2 | Belgium | 1095G>T | Arg365Ser | C-terminal (C3HC4 RING motif) | 1 | Unknown | 17 |
| 3 | USA | 475_476insC | Ala162Glyfs*14 | N-terminal | 1 | 8.5 | 17 |
| 4 | USA | 637delC | Arg213Glyfs*73 | N-terminal | 1 | 8.0 | 17 |
| 5 | Greece | 1018T>G | Cys340Gly | C-terminal (C3HC4 RING motif) | 1 | Unknown | 23 |
| 6 | Germany | 331G>T | Glu111* | N-terminal (C3H motif) | 1 | ~9.0 | 21 |
| 7 | Israel | 1260T>G | His420Gln | C-terminal (C3H motif) | 1 | Unknown | 22 |
| 8 | Denmark | 1034G>A | Arg345His | C-terminal (C3HC4 RING motif) | 1 | Unknown | 34 |
| 9 | Korea | 841C>T | Gln281* | MKRN-specific Cys-His domain |
1 | Unknown | 33 |
| 10 | Argentina | 982C>T | Arg328Cys | C-terminal (C3HC4 RING motif) | 3 | 7.5 8.5 8.6 |
Current study |
Boys from families 1, 2, 3, 4 and 10 were included in the current study. In family 10, father’s DNA was not available for segregation analysis. He reported early puberty. In the other 9 families, the affected boys inherited the mutations from their fathers, as expected for the pattern of inheritance.