ミウラ　マズミ   Mazumi Miura   三浦　真澄    所属   川崎医科大学  医学部 臨床医学　小児科学    職種   教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Prenatal clinical manifestations in individuals with COL4A1/2 variants.
掲載誌名	正式名：Journal of medical genetics
掲載区分	国外
巻・号・頁	58(8),pp.505-513
著者・共著者	Toshiyuki Itai,Satoko Miyatake,Masataka Taguri,Fumihito Nozaki,Masayasu Ohta,Hitoshi Osaka,Masafumi Morimoto,Tomoko Tandou,Fumikatsu Nohara,Yuichi Takami,Fumitaka Yoshioka,Shoko Shimokawa,Jiu Okuno-Yuguchi,Mitsuo Motobayashi,Yuko Takei,Tetsuhiro Fukuyama,Satoko Kumada,Yohane Miyata,Chikako Ogawa,Yuki Maki,Noriko Togashi,Teruyuki Ishikura,Makoto Kinoshita,Yusuke Mitani,Yonehiro Kanemura,Tsuyoshi Omi,Naoki Ando,Ayako Hattori,Shinji Saitoh,Yukihiro Kitai,Satori Hirai,Hiroshi Arai,Fumihiko Ishida,Hidetoshi Taniguchi,Yasuji Kitabatake,Keiichi Ozono,Shin Nabatame,Robert Smigiel,Mitsuhiro Kato,Koichi Tanda,Yoshihiko Saito,Akihiko Ishiyama,Yushi Noguchi,Mazumi Miura,Takaaki Nakano,Keiko Hirano,Ryoko Honda,Ichiro Kuki,Jun-Ichi Takanashi,Akihito Takeuchi,Tatsuya Fukasawa,Chizuru Seiwa,Atsuko Harada,Yusuke Yachi,Hiroyuki Higashiyama,Hiroshi Terashima,Tadayuki Kumagai,Satoshi Hada,Yoshiichi Abe,Etsuko Miyagi,Yuri Uchiyama,Atsushi Fujita,Eri Imagawa,Yoshiteru Azuma,Kohei Hamanaka,Eriko Koshimizu
発行年月	2020/07/30
概要	BACKGROUND: Variants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear. 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.
DOI	10.1136/jmedgenet-2020-106896
PMID	32732225