A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study

Table 2

Patients’ genetic features.

Patient’s number	Chromosome	Gene	Inheritance pattern	Mutation type	Variant	Protein	Genotype	Reference	dbSNP number
1	6	TREM2	Autosomal recessive	Splicing	c.482+2T>C	—	Homozygous	Paloneva et al. [22]	rs386834144
2	6	TREM2	Autosomal recessive	Splicing	c.482+2T>C	—	Homozygous	Paloneva et al. [22]	rs386834144
3	3	CHMP2B	Autosomal dominant	Missense	c.C613T	p.R205W	Heterozygous	Kim et al. [23]; Zhang et al. [24]	rs373536428
4	5	CSF1R	Autosomal dominant	Missense	c.G2239A	p.G747R	Heterozygous	This study	rs41355444
5	21	APP	Autosomal dominant	Missense	c.G2137A	p.A713T	Heterozygous	Carter et al. [25]	rs63750066
6	3	SERPINI1	Autosomal dominant	Missense	c.G289A	p.V97I	Heterozygous	This study	rs61750375
7	17	GRN	Autosomal dominant	Missense	c.C110G	p.A37G	Heterozygous	This study	No data
8	6	APP	Autosomal dominant	Missense	c.G1604A	p.R535H	Heterozygous	This study	No data