Initially all people that have been identified with this syndrome have an identical genetic change, an inframe single codon deletion in POLD1 resulting in a loss of serine at position 605. The POLD1 gene is expressed in all cells and the particular change seen in most patients results in loss of DNA polymerase activity but only mildly impairs the proof reading exonuclease activity. In 2014 a second genetic change was reported in an Italian patient, a novel heterozygous mutation in exon 13 (R507C). Most cases identified to date have been caused by a spontaneous genetic change (so the parents of the individual are unaffected).
MDP syndrome
SUNCT syndrome
MASA syndrome
Crome syndrome
TAN syndrome
IPEX syndrome
WHIM syndrome
Dressler syndrome