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Войти в исследования Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Itai Toshiyuki, Miyatake Satoko, Taguri Masataka, Nozaki Fumihito, Ohta Masayasu, Osaka Hitoshi, Morimoto Masafumi, Tandou Tomoko, Nohara Fumikatsu, Takami Yuichi, Yoshioka Fumitaka, Shimokawa Shoko, Okuno-Yuguchi Jiu, Motobayashi Mitsuo, Takei Yuko, Fukuyama Tetsuhiro, Kumada Satoko, Miyata Yohane, Ogawa Chikako, Maki Yuki, Togashi Noriko, Ishikura Teruyuki, Kinoshita Makoto, Mitani Yusuke, Kanemura Yonehiro, Omi Tsuyoshi, Ando Naoki, Hattori Ayako, Saitoh Shinji, Kitai Yukihiro, Hirai Satori, Arai Hiroshi, Ishida Fumihiko, Taniguchi Hidetoshi, Kitabatake Yasuji, Ozono Keiichi, Nabatame Shin, Smigiel Robert, Kato Mitsuhiro, Tanda Koichi, Saito Yoshihiko, Ishiyama Akihiko, Noguchi Yushi, Miura Mazumi, Nakano Takaaki, Hirano Keiko, Honda Ryoko, Kuki Ichiro, Takanashi Jun-Ichi, Takeuchi Akihito, Fukasawa Tatsuya, Seiwa Chizuru, Harada Atsuko, Yachi Yusuke, Higashiyama Hiroyuki, Terashima Hiroshi, Kumagai Tadayuki, Hada Satoshi, Abe Yoshiichi, Miyagi Etsuko, Uchiyama Yuri, Fujita Atsushi, Imagawa Eri, Azuma Yoshiteru, Hamanaka Kohei, Koshimizu Eriko, Mitsuhashi Satomi, Mizuguchi Takeshi, Takata Atsushi, Miyake Noriko, Tsurusaki Yoshinori, Doi Hiroshi, Nakashima Mitsuko, Saitsu Hirotomo, Matsumoto Naomichi
Аннотация
METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from COL4A1/2 variants, we focused on individuals showing prenatal abnormal ultrasound findings and validated their prenatal and postnatal clinical features in detail.
RESULTS: Pathogenic COL4A1/2 variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n=15). Thirty-four variants occurred de novo (n=34/56, 60.7%). Foetal information was available in 47 of 56 individuals, 32 of whom (n=32/47, 68.1%) had one or more foetal abnormalities. The median gestational age at the detection of initial prenatal abnormal features was 31 weeks of gestation. Only 14 individuals had specific prenatal findings that were strongly suggestive of features associated with COL4A1/2 variants. Foetal ventriculomegaly was the most common initial feature (n=20/32, 62.5%). Posterior fossa abnormalities, including Dandy-Walker malformation, were observed prenatally in four individuals. Regarding extrabrain features, foetal growth restriction was present in 16 individuals, including eight individuals with comorbid ventriculomegaly.
CONCLUSIONS: Prenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and COL4A1/2 gene testing should be considered when pathogenic variants are strongly suspected.