Table 2

Results of mutation screening of ZNF81 in MRX patients

Tested individuals
ExonNucleotide changeAmino acid changeLinked familiesUnlinked familiesControl malesControl femalesMR males
n = 24n = 285
*Not present in affected brother in one family; †not applicable.
38C>TA3V030/1874/72NA
Intron 4IVS4+8NA†042/95NANA
6a470A>G*N157S*03*1/171NANA
6a 536G>A S179N 1 0 0/241 0/105 0/217
6a554C>TS185L142/168NANA
6c1495A>GI499V020/2242/105NA