FIHP patients with MEN1 sequence variations
ID | Age (y) at diagnosis | Sex M/F | Initial presentation | Affected family (n) | Parathyroid histology | MEN1 sequence variation and predicted protein |
---|---|---|---|---|---|---|
Nucleotide and amino acid positions start from the initiation codon of MEN1. | ||||||
A | 57 | M | Renal calculi | 2 | Four gland hyperplasia | 255–256insCAGTGGCCGACCTGTCTAT, 121 amino acid truncated protein |
B | 54 | M | Renal calculi | 1 | Three gland hyperplasia | 590C>T T197I |
C | 23 | F | Asymptomatic | 2 | Hyperplasia | 1057–1059delACT, 407 amino acid truncated protein |
D | 56 | F | Asymptomatic | 1 | Hyperplasia | 1252G>C D418H |
E | 16 | M | Unknown | 1 | Four gland hyperplasia | 1546–1547insC, 529 amino acid truncated protein |