PhenoModifier-Variant Detail

Variant "PSEN1:c.796G>A(p.Gly266Ser)"

Search result: 1 record

Variant information

Gene:

PSEN1

Variant:

PSEN1:c.796G>A(p.Gly266Ser)

Genomic location:

chr14:73664765(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_000021.3:c.796G>A(p.Gly266Ser)
protein_coding	NM_007318.2:c.784G>A(p.Gly262Ser)

dbSNP ID:

rs121917807

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered onset time(1)

Detail：

Target disease:

Alzheimer's Disease 3 (DOID_0110042)

Effect type:

Expressivity

Modifier effect:

Altered onset time

Evidence:

Pedigree analysis

Effect:

Mutations causing EOFAD associated with spastic paraparesis

Reference:

PMID17507029

Title:

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.

Species studied:

Human

Abstract:

Early onset familial Alzheimer's disease (EOFAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. Several families with an association of progressive dementia and spastic paraplegia caused by PSEN1 mutations have been described. Here we described a novel PSEN1 mutation that was associated with dementia and spastic paraplegia in a family with 5 affected individuals in three generations. The proband was a 44-year-old woman who presented with 5 years history of progressive difficulties in walking, cognition and visuospatial impairment. Her maternal grandmother, mother and two maternal aunts also had similar neurological presentation. Molecular genetic analysis showed a missense mutation predicted to substitute an arginine residue for a serine residue at position 278 in the PSEN1 polypeptide (Arg278Ser). The novel PSEN1 mutation identified in this patient adds to the diverse list of existing mutations causing EOFAD associated with spastic paraparesis.