ID
45211
Descrição
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.
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Versões (2)
- 02/08/2022 02/08/2022 - Simon Heim
- 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos
Tadafumi Kato, MD, PhD, RIKEN Brain Science Institute, Saitama, Japan
Transferido a
12 de outubro de 2022
DOI
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Licença
Creative Commons BY 4.0
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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.
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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])