Table 2.

Pathogenic mutations identified in EOAD and FTD genes in this study

Patient ID	Gene	Exon	Genomic mutation	Predicted cDNA	Predicted protein	Protein domain	APOE genotype
506	APP	17	g.275333C>T	c.2141C>T	p.Thr714Ile	TM-I	ε3/ε3
11323a	PSEN1	5	g.25607A>G	c.404A>G	p.Asn135Ser	TM-II	-
9018	PSEN1	5	g.25639A>C	c.436A>C	p.Met146Leu	TM-II	ε2/ε3
711	PSEN1	7	g.44636G>C	c.617G>C	p.Gly206Ala	TM-IV	ε4/ε4
15066	PSEN1	7	g.44636G>C	c.617G>C	p.Gly206Ala	TM-IV	ε2/ε3
11967	PSEN1	7	g.44636G>C	c.617G>C	p.Gly206Ala	TM-IV	ε3/ε3
10232	PSEN1	7	g.44672C>T	c.653C>T	p.Pro218Leuc c	TL-IV	ε3/ε3
15408	PSEN1	7	g.44733C>G	c.714C>G	p.Ile238Met	TM-V	ε3/ε4
14915	PSEN2	5	g.3661C>T	c.389C>T	p.Ser130Leu	HL-I	ε3/ε3
8120	PSEN2	6	g.6206A>G	c.520A>G	p.Met174Val	TM-III	ε4/ε4
15229	PSEN2	6	g.6234T>C	c.548T>C	p.Phe183Serc	C-Term	ε3/ε3
14330b	GRN	6	g.1407_1408delAG	c.592_593delAG	p.Arg198Glyfs19X	InterFB	ε3/ε4
15625	MAPT	13	g.137465C>T	c.1216C>T	p.Arg406Trp	C-Term	ε3/ε3
9979	C9ORF72	Intronic	g.26724GGGGCC(3_23)	N/A	N/A	Non-coding	ε3/ε3
7391	C9ORF72	Intronic	g.26724GGGGCC(3_23)	N/A	N/A	Non-coding	ε3/ε3

^aPatient previously reported in Crook et al. (ref).

^bPatient previously reported in Finch et al. (ref).

^cNovel mutation.

APP, amyloid precursor protein, PSEN1, presenilin 1, PSEN2, presenilin 2, GRN, progranulin, MAPT, microtubule associated protein tau, C9ORF72, chromosome 9 open reading frame 72. N/A, not applicable, TM, transmembrane domain, HL, hydrophilic loop, C-Term, C-terminal domain, InterFB, linker region between granulins F and B.