ID
45211
Beschreibung
Principal Investigator: Tadafumi Kato, MD, PhD, RIKEN Brain Science Institute, Saitama, Japan MeSH: Ophthalmoplegia, Chronic Progressive External https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000392 Progressive external ophthalmoplegia (PEO) is an inherited mitochondrial disease that follows either autosomal dominant or recessive forms of inheritance (adPEO or arPEO). AdPEO is a genetically heterogeneous disease and several genes including *POLG1* and *C10orf2*/Twinkle have been identified as responsible genes. On the other hand, *POLG1* was the only established gene causing arPEO with mitochondrial DNA deletions. We previously reported a case of PEO with unidentified genetic etiology. The patient was born of a first-cousin marriage. Therefore, the recessive form of inheritance was suspected. To identify the disease causing variant in this patient, we subjected the patient's DNA to whole-exome sequencing and narrowed down the candidate variants using public data and runs of homozygosity analysis.
Link
Stichworte
Versionen (2)
- 02.08.22 02.08.22 - Simon Heim
- 12.10.22 12.10.22 - Adrian Schulz
Rechteinhaber
Tadafumi Kato, MD, PhD, RIKEN Brain Science Institute, Saitama, Japan
Hochgeladen am
12. Oktober 2022
DOI
Für eine Beantragung loggen Sie sich ein.
Lizenz
Creative Commons BY 4.0
Modell Kommentare :
Hier können Sie das Modell kommentieren. Über die Sprechblasen an den Itemgruppen und Items können Sie diese spezifisch kommentieren.
Itemgroup Kommentare für :
Item Kommentare für :
Um Formulare herunterzuladen müssen Sie angemeldet sein. Bitte loggen Sie sich ein oder registrieren Sie sich kostenlos.
dbGaP phs000392 Exome Sequencing of arPEO
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains a subject ID, consent group information and affection status.
- This data table contains mapping of study subject ID to sample ID.
- This subject phenotype table includes variables indicating the subject's sex, diagnosis and age of diagnosis.
- This sample attributes table includes variables indicating the the body site where the sample was extracted, sample analyte type and histological type.
Ähnliche Modelle
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains a subject ID, consent group information and affection status.
- This data table contains mapping of study subject ID to sample ID.
- This subject phenotype table includes variables indicating the subject's sex, diagnosis and age of diagnosis.
- This sample attributes table includes variables indicating the the body site where the sample was extracted, sample analyte type and histological type.
C0162674 (UMLS CUI [1,2])