WOREE syndrome explained

WWOX-related epileptic encephalopathy, also known as WOREE syndrome, is a rare genetic developmental disorder. Its effects include drug-resistant epilepsy, developmental delay, ataxia, and premature death at ages 2-4 years.[1] [2] [3] It is one of several disorders that can be caused by defects in the WWOX gene.[4]

It is a rare disease, with only 60 cases having been identified as of 2023.[5]

Notes and References

  1. Riva . Antonella . Nobile . Giulia . Giacomini . Thea . Ognibene . Marzia . Scala . Marcello . Balagura . Ganna . Madia . Francesca . Accogli . Andrea . Romano . Ferruccio . Tortora . Domenico . Severino . Mariasavina . Scudieri . Paolo . Baldassari . Simona . Musante . Ilaria . Uva . Paolo . 2022 . A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome . Frontiers in Pediatrics . 10 . 847549 . 10.3389/fped.2022.847549 . free . 2296-2360 . 9100683 . 35573960.
  2. Feng . Dan . Li . Ye . Zhang . Ya-Ting . Song . Yan-Jun . Qin . Dong-Yuan . Wang . Fan . 2024-10-02 . WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report . Frontiers in Pediatrics . English . 12 . 10.3389/fped.2024.1453778 . free . 39416860 . 11479972 . 2296-2360.
  3. Repudi . Srinivasarao . Steinberg . Daniel J. . Elazar . Nimrod . Breton . Vanessa L. . Aquilino . Mark S. . Saleem . Afifa . Abu-Swai . Sara . Vainshtein . Anna . Eshed-Eisenbach . Yael . Vijayaragavan . Bharath . Behar . Oded . Hanna . Jacob J. . Peles . Elior . Carlen . Peter L. . Aqeilan . Rami I. . 2021-11-29 . Neuronal deletion of Wwox, associated with WOREE syndrome, causes epilepsy and myelin defects . Brain: A Journal of Neurology . 144 . 10 . 3061–3077 . 10.1093/brain/awab174 . 1460-2156 . 33914858.
  4. Piard . Juliette . Hawkes . Lara . Milh . Mathieu . Villard . Laurent . Borgatti . Renato . Romaniello . Romina . Fradin . Melanie . Capri . Yline . Héron . Delphine . Nougues . Marie-Christine . Nava . Caroline . Arsene . Oana Tarta . Shears . Debbie . Taylor . John . Pagnamenta . Alistair . 2019-06-01 . The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature . Genetics in Medicine . English . 21 . 6 . 1308–1318 . 10.1038/s41436-018-0339-3 . 1098-3600 . 30356099. 6752669 .
  5. Dong . Xing-sheng . Wen . Xiao-jun . Zhang . Sheng . Wang . De-gang . Xiong . Yi . Li . Zhi-ming . 2023-11-16 . Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome . BMC Medical Genomics . 16 . 1 . 291 . 10.1186/s12920-023-01731-4 . free . 1755-8794 . 10652538 . 37974179.

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