ID

45049

Beschrijving

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

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000392

Trefwoorden

Versies (2)

1. 02-08-22 02-08-22 - Simon Heim
2. 12-10-22 12-10-22 - Adrian Schulz

Houder van rechten

Tadafumi Kato, MD, PhD, RIKEN Brain Science Institute, Saitama, Japan

Geüploaded op

2 augustus 2022

DOI

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Licentie