Table 1

FIHP patients with MEN1 sequence variations

IDAge (y) at diagnosisSex M/FInitial presentationAffected family (n)Parathyroid histologyMEN1 sequence variation and predicted protein
Nucleotide and amino acid positions start from the initiation codon of MEN1.
A57MRenal calculi2Four gland hyperplasia255–256insCAGTGGCCGACCTGTCTAT, 121 amino acid truncated protein
B54MRenal calculi1Three gland hyperplasia590C>T T197I
C23FAsymptomatic2Hyperplasia1057–1059delACT, 407 amino acid truncated protein
D56FAsymptomatic1Hyperplasia1252G>C D418H
E16MUnknown1Four gland hyperplasia1546–1547insC, 529 amino acid truncated protein