Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Sakamoto Masamune, Iwama Kazuhiro, Sasaki Masayuki, Ishiyama Akihiko, Komaki Hirofumi, Saito Takashi, Takeshita Eri, Shimizu-Motohashi Yuko, Haginoya Kazuhiro, Kobayashi Tomoko, Goto Tomohide, Tsuyusaki Yu, Iai Mizue, Kurosawa Kenji, Osaka Hitoshi, Tohyama Jun, Kobayashi Yu, Okamoto Nobuhiko, Suzuki Yume, Kumada Satoko, Inoue Kenji, Mashimo Hideaki, Arisaka Atsuko, Kuki Ichiro, Saijo Harumi, Yokochi Kenji, Kato Mitsuhiro, Inaba Yuji, Gomi Yuko, Saitoh Shinji, Shirai Kentaro, Morimoto Masafumi, Izumi Yuishin, Watanabe Yoriko, Nagamitsu Shin-Ichiro, Sakai Yasunari, Fukumura Shinobu, Muramatsu Kazuhiro, Ogata Tomomi, Yamada Keitaro, Ishigaki Keiko, Hirasawa Kyoko, Shimoda Konomi, Akasaka Manami, Kohashi Kosuke, Sakakibara Takafumi, Ikuno Masashi, Sugino Noriko, Yonekawa Takahiro, Gürsoy Semra, Cinleti Tayfun, Kim Chong Ae, Teik Keng Wee, Yan Chan Mei, Haniffa Muzhirah, Ohba Chihiro, Ito Shuuichi, Saitsu Hirotomo, Saida Ken, Tsuchida Naomi, Uchiyama Yuri, Koshimizu Eriko, Fujita Atsushi, Hamanaka Kohei, Misawa Kazuharu, Miyatake Satoko, Mizuguchi Takeshi, Miyake Noriko, Matsumoto Naomichi
Аннотация
METHODS: Patients with CBHA in 176 families were genetically examined using exome sequencing. Patients with disease-causing variants were clinically evaluated.
RESULTS: Disease-causing variants were identified in 96 of the 176 families (54.5%). After excluding 6 families, 48 patients from 42 families were categorized as having syndromic associations with CBHA, whereas the remaining 51 patients from 48 families had isolated CBHA. In 51 patients, 26 aberrant genes were identified, of which, 20 (76.9%) caused disease in 1 family each. The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively. CBHA+S was more clinically severe than CBHA-S. Notably, ARG1 and FOLR1 variants were identified in 2 families, leading to medical treatments.
CONCLUSION: A wide genetic and clinical diversity of CBHA was revealed through exome sequencing in this cohort, which highlights the importance of comprehensive genetic analyses. Furthermore, molecular-based treatment was available for 2 families.