Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Minatogawa Mari, Unzaki Ai, Morisaki Hiroko, Syx Delfien, Sonoda Tohru, Janecke Andreas R, Slavotinek Anne, Voermans Nicol C, Lacassie Yves, Mendoza-Londono Roberto, Wierenga Klaas J, Jayakar Parul, Gahl William A, Tifft Cynthia J, Figuera Luis E, Hilhorst-Hofstee Yvonne, Maugeri Alessandra, Ishikawa Ken, Kobayashi Tomoko, Aoki Yoko, Ohura Toshihiro, Kawame Hiroshi, Kono Michihiro, Mochida Kosuke, Tokorodani Chiho, Kikkawa Kiyoshi, Morisaki Takayuki, Kobayashi Tetsuyuki, Nakane Takaya, Kubo Akiharu, Ranells Judith D, Migita Ohsuke, Sobey Glenda, Kaur Anupriya, Ishikawa Masumi, Yamaguchi Tomomi, Matsumoto Naomichi, Malfait Fransiska, Miyake Noriko, Kosho Tomoki
Аннотация
METHODS: We collected detailed and comprehensive clinical and molecular information regarding previously reported and newly identified patients with mcEDS-CHST14 through international collaborations.
RESULTS: Sixty-six patients in 48 families (33 males/females; 0-59 years), including 18 newly reported patients, were evaluated. Japanese was the predominant ethnicity (27 families), associated with three recurrent variants. No apparent genotype-phenotype correlation was noted. Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent joint dislocation), cutaneous (hyperextensibility, fine/acrogeria-like/wrinkling palmar creases and bruisability) and ocular (refractive errors) features were observed in most patients (>90%). Large subcutaneous haematomas, constipation, cryptorchidism, hypotonia and motor developmental delay were also common (>80%). Median ages at the initial episode of dislocation or large subcutaneous haematoma were both 6 years. Nine patients died; their median age was 12 years. Several features, including joint and skin characteristics (hypermobility/extensibility and fragility), were significantly more frequent in patients with mcEDS-CHST14 than in eight reported patients with mcEDS-DSE.
CONCLUSION: This first international collaborative study of mcEDS-CHST14 demonstrated that the subtype represents a multisystem disorder with unique set of clinical phenotypes consisting of multiple malformations and progressive fragility-related manifestations; these require lifelong, multidisciplinary healthcare approaches.