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Table 2 Pathogenic mutations identified in 6 affected individuals (6 families)

From: Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol

Family code

Diagnosis

Gene

Mutation

(nucleotide change)

(amino acid change)

30_1

Inherited AD

PSEN2

NM_000447.3: c.717G>A

M239Ia

36_1

IBMPFD

VCP

NM_007126.5: c.277C>T

R93Cb

L029

Inherited FTD

GRN

NM_002087.3: c.813_816del

Thr272fsc

L031

Inherited AD

PSEN2

NM_000447.3: c.717G>A

M239Ia

L035

Inherited FTD

MAPT

NM_005910.5: c.915+3G>A

IVS10+3G>Ad

L036

Inherited AD

PSEN1

NM_000021.4: c.1129A>T

R377We

  1. AD Alzheimer’s disease, FTD frontotemporal dementia, IBMPFD inclusion body myopathy with Paget disease of bone and frontotemporal dementia, PSEN presenilin, VCP valosin-containing protein, GRN granulin, PSEN2 presenilin2, MAPT microtubule-associated protein tau
  2. ars63749884 (NC_000001.11:g.226888979G>A)
  3. brs1554669087 (NC_000009.11; g.35067913C>T)
  4. crs63749877 (NC_000017.11:g.44351141_44351144delCACT)
  5. drs63750013 (NG_007398.1: g.120985G>A)
  6. ers1555357544 (NC_000014.9:g.73211942A>T)