NM_000311.4(PRNP):c.314C>T (p.Pro105Leu) AND Gerstmann-Straussler-Scheinker syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 1, 1993)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000014343.25

Allele description

NM_000311.4(PRNP):c.314C>T (p.Pro105Leu)

Gene:
PRNP:prion protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_000311.4(PRNP):c.314C>T (p.Pro105Leu)
HGVS:
  • NC_000020.11:g.4699534C>T
  • NG_009087.1:g.18384C>T
  • NM_000311.4:c.314C>T
  • NM_001271561.1:c.*3C>T
  • NP_000302.1:p.Pro105Leu
  • NC_000020.10:g.4680180C>T
  • NM_000311.3:c.314C>T
  • P04156:p.Pro105Leu
Protein change:
P105L; PRO105LEU
Links:
UniProtKB: P04156#VAR_006465; OMIM: 176640.0015; dbSNP: rs11538758
NCBI 1000 Genomes Browser:
rs11538758
Molecular consequence:
  • NM_001271561.1:c.*3C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000311.4:c.314C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gerstmann-Straussler-Scheinker syndrome (GSD)
Synonyms:
GERSTMANN-STRAUSSLER DISEASE; CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS; PRION DEMENTIA; See all synonyms [MedGen]
Identifiers:
MedGen: C0017495; Orphanet: 356; OMIM: 137440

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034592OMIMno assertion criteria providedPathogenic
(Dec 1, 1993)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.

Yamada M, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J, et al.

Neurology. 1993 Dec;43(12):2723-4. No abstract available.

PubMed [citation]
PMID:
7902972

Details of each submission

From OMIM, SCV000034592.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Japanese man, aged 53 years at the time of death, Yamada et al. (1993) related Gerstmann-Straussler disease (GSD; 137440) to the presence a heterozygous C-to-T transition in the PRNP gene, resulting in a pro105-to-leu (P105L) substitution. The P105L mutation was accompanied by val129 (176640.0005). The mother had died at age 78 after showing dementia for the last 3 years of her life but no other neurologic symptoms. The propositus first noticed clumsiness of the right hand at age 42, and then developed gait disturbance. At age 49, he showed spastic paraparesis, ataxia, memory impairment, and dysarthria. He became bedridden at age 50 and underwent progressive decline and intellectual function with death from ileus at age 53.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2018

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