Table 1.

Molecular analysis of the new patients with FHHNC

PatientGenderOriginConsanguinityZygosityNucleotide ChangePredicted Protein Change
F29FGermanHomozygous453(TTG→TTT)p.L151F
F30FGermanHomozygous453(TTG→TTT)p.L151F
F32-1MTurkish+Homozygous715(GGA→AGA)p.G239R
F32-2MTurkish+Homozygous715(GGA→AGA)p.G239R
F33MGermanHomozygous453(TTG→TTT)p.L151F
F34FGermanCompound heterozygous385(CGC→TGC)-453(TTG→TTT)p.R129Ca-p.L151F
F37-1MGermanHeterozygous453(TTG→TTT)p.L151F
F37-2MGermanHeterozygous453(TTG→TTT)p.L151F
F56F?+Homozygous341(CGA→AGA)p.R114Qa
F60FGermanCompound heterozygous453(TTG→TTT)-625(GCT→ACT)p.L151F-p.A209T
F61-1MGermanHeterozygous453(TTG→TTT)p.L151F
F61-2FGermanHeterozygous453(TTG→TTT)p.L151F
F62MArab+Homozygous236delGp.A80fsX91a
F64FPolishCompound heterozygous329(AGC→AGG)-453(TTG→TTT)p.L151F-p.S110Ra
F66MTurkish+Homozygous710(TGG→TAG)p.W237Xa
F63-1MBritishCompound heterozygous646(CGT→TGT)-784 + 1(G→T)p.R216C-splice sitea
F69-2FBritishCompound heterozygous646(CGT→TGT)-784 + 1(G→T)p.R216C-splice sitea
F70FTurkish+Homozygous679(GGA→CGA)p.G227Ra
F71MBulgarianCompound heterozygous434(CTG→CCG)- 453(TTG→TTT)p.L145P-p.L151F
F72FEnglish/GermanCompound heterozygous408–410delCAT-453(TTG→TTT)p.I137dela-p.L151F
F73FGermanHeterozygous385(CGC→TGC)p.R129Ca-?
F74-1MSerbianHomozygous453(TTG→TTT)p.L151F
F74-2FSerbianHomozygous453(TTG→TTT)p.L151F
F74-3MSerbianHomozygous453(TTG→TTT)p.L151F
F77MGermanCompound heterozygous453(TTG→TTT)-263(GGG→GAG)p.L151F-p.G88E
F78-1MArab+Homozygous212(ATG→ACG)p.M71T,a loss of start
F79-1FArab+Homozygous212(ATG→ACG)p.M71T,a loss of start
F80-1FArab+Homozygous212(ATG→ACG)p.M71T,a loss of start
F80-2FArab+Homozygous212(ATG→ACG)p.M71T,a loss of start
F80-3MArab+Homozygous212(ATG→ACG)p.M71T,a loss of start
F81-1FArab+Homozygous646(CGT→TGT)p.R216Ca
F81-2MArab+Homozygous646(CGT→TGT)p.R216Ca
F83-1FMacedonian+Homozygous453(TTG→TTT)p.L151F
F83-2FMacedonian+Homozygous453(TTG→TTT)p.L151F
F83-3MMacedonian+Homozygous453(TTG→TTT)p.L151F
F87-1MTurkish+Homozygous453(TTG→TTT)p.L151F
F87-2MTurkish+Homozygous453(TTG→TTT)p.L151F
F87-3MTurkish+Homozygous453(TTG→TTT)p.L151F
F88-1MTurkish+Homozygous385(CGC→TGC)p.C131Ra
  • a New mutation.