RGD Reference Report - Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. - Rat Genome Database

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Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

Authors: Simon-Sanchez, J  Singleton, AB 
Citation: Simon-Sanchez J and Singleton AB, Hum Mol Genet. 2008 Jul 1;17(13):1988-93. Epub 2008 Mar 25.
RGD ID: 5688394
Pubmed: PMID:18364387   (View Abstract at PubMed)
PMCID: PMC2574854   (View Article at PubMed Central)
DOI: DOI:10.1093/hmg/ddn096   (Journal Full-text)

A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German population. In an attempt to replicate these results in an independent population, we analyzed the entire coding region of OMI/HTRA2 in a series of 644 North American PD cases with both young- and late-onset disease and in 828 North American neurologically normal controls. Our results show that neither of the variants previously related to PD were associated with PD in our cohort and that the risk variants were present in neurologically normal controls.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Parkinson's disease no_associationIAGP 5688394DNA:missense mutations:cds:p.A141S and p.G399S (human)RGD 
Parkinson's disease no_associationISOHTRA2 (Homo sapiens)5688394; 5688394DNA:missense mutations:cds:p.A141S and p.G399S (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bradykinesia no_associationIAGP 5688394DNA:missense mutations:cds:p.A141S and p.G399S RGD 
Lewy bodies no_associationIAGP 5688394DNA:missense mutations:cds:p.A141S and p.G399S RGD 
Resting tremor no_associationIAGP 5688394DNA:missense mutations:cds:p.A141S and p.G399S RGD 
Objects Annotated

Genes (Rattus norvegicus)
Htra2  (HtrA serine peptidase 2)

Genes (Mus musculus)
Htra2  (HtrA serine peptidase 2)

Genes (Homo sapiens)
HTRA2  (HtrA serine peptidase 2)


Additional Information