Table 3 Ancestral origin of pathogenic variants found in more than one carrier

From: Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations

Gene

Coding change

AA change

Number of independent families

Number of carriers with WGS/WES

Ancestral haplotype

GRN

c.767_768insCC

Gln257Profs*27

2

2

European

c.1098 T > A

Cys366Ter

1

3

European

MAPT

c.915 T > C

Ser305Ser

1

3

European

PSEN1

c.356 C > T

Thr119Ile

4

16

European

c.415 A > G

Met139Val

1

8

Amerindian

TARDBP

c.1147 A > G

Ile383Val

1

2

European

  1. AA amino acid, WGS whole genome sequencing, WES whole exome sequencing. The ‘number of independent families’ clusters individuals into ‘families’ based on pedigree reconstruction from the participant interview.
Back to article page