Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

Table 1 Genetic characteristics of newly identified ICF1 patients

Patients	P1	P2	P3^*	P4^*	pY
Year of birth	2010	2008	2009	2013	1996
Gender	F	M	F	F	M
Amino acid changes in DNMT3B (NP_008823.1)	p. S655L/ ?	p. R104X/p. I721T	p. G583S/p. G583S	p. G583S/p. G583S	p.T775I/p.T775I
Consanguinity	NO	NO	YES	YES	YES

ISSN: 1750-1172