ノナカ　マサヒロ   NONAKA MASAHIRO   埜中　正博    所属   関西医科大学  脳神経外科学講座    職種   教授
論文種別	原著(症例報告除く)
言語種別	英語
査読の有無	査読あり
表題	Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus).
掲載誌名	正式名：Journal of neurosurgery. Pediatrics 略　 称：J Neurosurg Pediatr ISSNコード：1933071519330707
掲載区分	国外
巻・号・頁	8(4),pp.411-416
著者・共著者	Yamasaki Mami, Nonaka Masahiro, Suzumori Nobuhiro, Nakamura Hiroaki, Fujita Hiroshi, Namba Akira, Kamei Yoshimasa, Yamada Takahiro, Pooh Ritsuko K, Tanemura Mitsuyo, Sudo Norihito, Nagasaka Masato, Yoshioka Ema, Shofuda Tomoko, Kanemura Yonehiro
担当区分	2nd著者
発行年月	2011/10
概要	OBJECT:The aim of this study was to evaluate the feasibility of prenatal L1CAM gene testing for X-linked hydrocephalus (XLH).METHODS:In a nationwide study conducted in Japan between 1999 and 2009, the authors identified 51 different L1CAM gene mutations in 56 families with XLH. Of these 56 families, 9 obligate carriers requested prenatal gene mutation analysis for the fetal L1CAM gene in 14 pregnancies.RESULTS:In 2004, new clinical guidelines for genetic testing were established by 10 Japanese genetic medicine-related societies. These guidelines stated that the genetic testing of carriers should be done only with their consent and with genetic counseling. Therefore, because females are carriers, since 2004, L1CAM gene analysis has not been performed for female fetuses. The authors report on 7 fetal genetic analyses that were performed at the request of families carrying L1CAM mutations, involving 3 female (prior to 2004) and 4 male fetuses. Of the 7 fetuses, 3 (1 male and 2 female) carried L1CAM mutations. Of these 3, 1 pregnancy (the male fetus) was terminated; in the other cases, the pregnancies continued, and 3 female and 3 male babies without the XLH phenotype were born.CONCLUSIONS:Prenatal L1CAM gene testing combined with genetic counseling was beneficial for families carrying L1CAM mutations.
DOI	10.3171/2011.7.PEDS10531
PMID	21961551