{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T08:04:08Z","timestamp":1790409848599,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Regional Council of Burgundy and Dijon University Hospital"},{"name":"AOI","award":["2013"],"award-info":[{"award-number":["2013"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Alterations in <jats:italic>GFER<\/jats:italic> gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19\u2010year\u2010old girl with a strikingly similar phenotype, but this ultra\u2010rare entity remains however unknown from most of the scientific community.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Whole exome sequencing was performed as part of a \u201cdiagnostic odyssey\u201d for suspected mitochondrial condition in 2 patients, presenting congenital cataracts, progressive encephalomyopathy and hypotrophy and detected unreported compound heterozygous variants in <jats:italic>GFER<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thanks to an international data sharing, we found 2 additional patients carrying compound heterozygous variants in <jats:italic>GFER.<\/jats:italic> Reverse phenotyping confirmed the phenotypical similarities between the 4 patients. Together with the first literature reports, the review of these 8 cases from 4 unrelated families enables us to better describe this apparently homogeneous disorder, with the clinical and biological stigmata of mitochondrial disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report highlights the clinical utility of whole exome sequencing and reverse phenotyping for the diagnosis of ultra\u2010rare diseases and underlines the importance of a broad data sharing for accurate clinical delineation of previously unrecognized entities.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cge.12985","type":"journal-article","created":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T03:27:00Z","timestamp":1486092420000},"page":"188-198","source":"Crossref","is-referenced-by-count":26,"title":["Further delineation of a rare recessive encephalomyopathy linked to mutations in <scp>GFER<\/scp> thanks to data sharing of whole exome sequencing 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