Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer’s disease and frontotemporal dementia

Table 1 Clinical characteristics of patients with known or potentially pathogenic mutations

Patient No	Diagnosis	Gender	Onset age	Heredity	Protein change (dbSNP)	APOE	Function	Pathogenic	Population frequency^a	SIFT score^b	PolyPhen-2 score^b
1	AD	F	50	Yes	PSEN1 P264L (rs63750301)	ε3/ε4	Missense	Yes	0.0000040	0	1
2	AD	M	42	Yes	PSEN1 P264L (rs63750301)	ε3/ε4	Missense	Yes	0.0000040	0	1
3	AD	M	34	No	PSEN1 M146V (rs63750306)	ε3/ε3	Missense	Yes	-	0.01	0.985
4	AD	M	65	Yes	PSEN2 I144L (rs764718172)	ε3/ε3	Missense	Unknown	0.0000080	0.01	0.257
5	bvFTD	M	69	Yes	PSEN2 A252T (rs138836272)	ε3/ε3	Missense	Unknown	0.00023	0.42	0.172
					FUS Δ229-231 (rs767564995)		Deletion	Unknown	0.00021	-	-
6	AD	M	59	Yes	FUS Ser57Δ (rs777545405)	ε4/ε4	Deletion	Unknown	0.00017	-	-
7	svPPA	M	64	Yes	FUS Δ166-167 (rs537605135)	ε4/ε4	Deletion	Unknown	0.00030	-	-
8	AD	F	57	Yes	GRN A324V (rs758636128)	ε3/ε3	Missense	Unknown	0.000024	0.21	0.129
9	AD	M	59	Yes	MAPT V224G (rs141120474)	ε4/ε4	Missense	Unknown	0.0021	0	0.187
10	MCI	M	61	Yes	MAPT A239T (rs63750096)	ε3/ε4	Missense	Unknown	0.00063	0.27	0.079
11	AD	M	56	Yes	APOE R269G (rs267606661)	ε3/ε4	Missense	Unknown	0.00036	0	0.533
12	AD	M	44	Yes	APP Δ690-695	ε3/ε3	Deletion	Yes	-	-	-
13	AD	M	40	Yes	APP Δ690-695	ε3/ε3	Deletion	Yes	-	-	-

^aPopulation frequency was obtained from gnomAD database, except for rs767564995 for which dbSNP was used
^bPolyPhen-2 and SIFT scores were obtained using Ensembl Variant Effect Predictor. These scores are used to predict whether amino acid substitution is likely to affect protein function. The SIFT score ranges from 0.0 (deleterious) to 1.0 (tolerated). The PolyPhen-2 score ranges from 0.0 (tolerated) to 1.0 (deleterious)

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