Transmission disequilibrium test of 105 AD families showed that the null allele of the S2554Xvariant of FLG tended to be overtransmitted to AD-affected offspring; however, the P value did not reach statistical significance.
We screened 143 Japanese patients with AD for these FLG null mutations and identified them in 8 patients with AD (5.6%), including S2554X in 6 patients (4.2%) and 3321delA in 2 patients (1.4%).