Table 1.
Family | Pattern of Inheritance | Mutation | Consequence |
---|---|---|---|
A | autosomal recessive | c.1309C>T, p.Arg437X | suppresses IP1, a downstream metabolite of PLCD1 |
B | autosomal recessive | c.1792-10delTGTAGTGGCC | not tested |
C | autosomal dominant | c.1720C>T (antisense strand), p.Ala574Thr | not tested |
D | autosomal dominant | c.625T>C, p.Cys209Arg | not tested |