Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14)

Autor: Kosuke Mochida, Anne Slavotinek, Roberto Mendoza-Londono, Parul Jayakar, Kiyoshi Kikkawa, Luis E. Figuera, Andreas R. Janecke, Hiroko Morisaki, Takaya Nakane, Nicol C. Voermans, Delfien Syx, Tetsuyuki Kobayashi, Tomoko Kobayashi, Toshihiro Ohura, Klaas J. Wierenga, Tomomi Yamaguchi, Takayuki Morisaki, Mari Minatogawa, Michihiro Kono, William A. Gahl, Judith D. Ranells, Ai Unzaki, Tomoki Kosho, Cynthia J. Tifft, Yoko Aoki, Masumi Ishikawa, Ohsuke Migita, Akiharu Kubo, Naomichi Matsumoto, Fransiska Malfait, Chiho Tokorodani, Yves Lacassie, Tohru Sonoda, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Glenda Sobey, Noriko Miyake, Ken Ishikawa, Anupriya Kaur, Hiroshi Kawame

Publikováno v: Journal of Medical Genetics, 59, 9, pp. 865-877
Journal of Medical Genetics, 59, 865-877
Journal of Medical Genetics, 59(9), 865-877. BMJ Publishing Group
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Minatogawa, M, Unzaki, A, Morisaki, H, Syx, D, Sonoda, T, Janecke, A R, Slavotinek, A, Voermans, N C, Lacassie, Y, Mendoza-Londono, R, Wierenga, K J, Jayakar, P, Gahl, W A, Tifft, C J, Figuera, L E, Hilhorst-Hofstee, Y, Maugeri, A, Ishikawa, K, Kobayashi, T, Aoki, Y, Ohura, T, Kawame, H, Kono, M, Mochida, K, Tokorodani, C, Kikkawa, K, Morisaki, T, Kobayashi, T, Nakane, T, Kubo, A, Ranells, J D, Migita, O, Sobey, G, Kaur, A, Ishikawa, M, Yamaguchi, T, Matsumoto, N, Malfait, F, Miyake, N & Kosho, T 2022, ' Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) ', Journal of Medical Genetics, vol. 59, no. 9, pp. 865-877 . https://doi.org/10.1136/jmedgenet-2020-107623

BackgroundMusculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d298fb5f42a456694aa45a947844ec
https://hdl.handle.net/2066/287515

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

Autor: Rhoda Akilapa, Hanadi Kazkaz, Marion Bartlett, Glenda Sobey, Harveer Cheema, Fleur S van Dijk, Neeti Ghali, Vivienne McConnell, Jessica Bowen, Angela F. Brady, Renarta Crookes, Joanna Brock, Anthony Vandersteen, F Michael Pope, Chloe Angwin, Claire Green, Diana Johnson, Duncan Baker, Erin Chamberlain

Publikováno v: Genetics in Medicine. 22:1576-1582

Purpose Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55370eac70293d7944abcaa877bfd1f4
https://doi.org/10.1038/s41436-020-0850-1

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

Autor: Sandy Ayoub, Cecilia Giunta, Tomoki Kosho, Glenda Sobey, Neeti Ghali, Duncan Baker, Stella Baffini, Fleur S van Dijk, Katherine Neas, Anthony Vandersteen, Frank Rutsch, Gloria Scarselli, Diana Johnson, Chloe Angwin, Angela F. Brady, Maria Luisa Giovannucci Uzielli, F. Michael Pope

Publikováno v: American Journal of Medical Genetics Part A. 182:994-1007

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip dislocations, severe generalized joint hypermobility, recurrent joint (sub)luxations, and skin hype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503a50661c23292f1207cd6954fcfd14
https://doi.org/10.1002/ajmg.a.61523

Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta

Autor: Sophie Cadden, Melody G Redman, Duncan Baker, Bart E. Wagner, Diana Johnson, Glenda Sobey, Meena Balasubramanian, Jessica M Bowen

Publikováno v: Ultrastructural pathology. 45(6)

Vascular Ehlers-Danlos Syndrome (vEDS) and Osteogenesis Imperfecta (OI) are two forms of connective tissue disorders. Previously, transmission electron microscopy of skin biopsies was routinely performed on all patients who were clinically suspected

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aff3d23e5c12e2a5babb50711c6699ca
https://pubmed.ncbi.nlm.nih.gov/34538206

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in

Autor: Mari, Minatogawa, Ai, Unzaki, Hiroko, Morisaki, Delfien, Syx, Tohru, Sonoda, Andreas R, Janecke, Anne, Slavotinek, Nicol C, Voermans, Yves, Lacassie, Roberto, Mendoza-Londono, Klaas J, Wierenga, Parul, Jayakar, William A, Gahl, Cynthia J, Tifft, Luis E, Figuera, Yvonne, Hilhorst-Hofstee, Alessandra, Maugeri, Ken, Ishikawa, Tomoko, Kobayashi, Yoko, Aoki, Toshihiro, Ohura, Hiroshi, Kawame, Michihiro, Kono, Kosuke, Mochida, Chiho, Tokorodani, Kiyoshi, Kikkawa, Takayuki, Morisaki, Tetsuyuki, Kobayashi, Takaya, Nakane, Akiharu, Kubo, Judith D, Ranells, Ohsuke, Migita, Glenda, Sobey, Anupriya, Kaur, Masumi, Ishikawa, Tomomi, Yamaguchi, Naomichi, Matsumoto, Fransiska, Malfait, Noriko, Miyake, Tomoki, Kosho

Publikováno v: Journal of medical genetics. 59(9)

Musculocontractural Ehlers-Danlos syndrome is caused by biallelic loss-of-function variants inWe collected detailed and comprehensive clinical and molecular information regarding previously reported and newly identified patients with mcEDS-Sixty-six

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e8068e28f248f3470796a2b17d194737
https://pubmed.ncbi.nlm.nih.gov/34815299