ヤマモト　トシユキ   YAMAMOTO Toshiyuki   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	原著
言語種別	英語
査読の有無	査読なし
表題	Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder
掲載誌名	正式名：Human genome variation. 略　 称：Hum Genome Var ISSNコード：2054345X
掲載区分	国外
巻・号・頁	11(1),pp.2
著者・共著者	SHIMOMURA Rina, YANAGISHITA Tomoe, ISHIGURO Kumiko, SHICHIJI Minobu, SATO Takatoshi, SHIMOGIMA YAMAMOTO Keiko, NAGATA Satoru, ISHIGAKI Keiko†, ASANO Yoshihiro, YAMAMOTO Toshiyuki
担当区分	責任著者
発行年月	2024/06/15
概要	GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild. This may be due to differences in the mosaic ratios in different organs.
DOI	10.1038/s41439-023-00262-9
PMID	38221519