Characteristic craniofacial defects associated with a novel USP9X truncation mutation

Nagata, Namiki; Kurosaka, Hiroshi; Higashi, Kotaro; Yamaguchi, Masaya; Yamamoto, Sayuri; Inubushi, Toshihiro; Nagata, Miho; Ishihara, Yasuki; Yonei, Ayumi; Miyashita, Yohei; Asano, Yoshihiro; Sakai, Norio; Sakata, Yasushi; Kawabata, Shigetada; Yamashiro, Takashi

doi:https://doi.org/10.1038/s41439-024-00277-w

Characteristic craniofacial defects associated with a novel USP9X truncation mutation

Nagata, Namiki; Kurosaka, Hiroshi; Higashi, Kotaro et al.

Human Genome Variation, 2024, 11

アクセス数:216件（2026-02-16 07:34 集計）

固定URL: https://hdl.handle.net/11094/103548

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タイトル	Characteristic craniofacial defects associated with a novel USP9X truncation mutation
著者	NRID 1000050983912 1000050983912 ORCID 0000-0002-1324-6208 0000-0002-1324-6208 Scopus Author ID 57295145700 57295145700 著者名 Nagata, Namiki
	NRID 1000020509369 1000020509369 ORCID 0000-0002-8956-5467 0000-0002-8956-5467 researchmap permalink kurosakahiroshi kurosakahiroshi Scopus Author ID 11839162500 11839162500 著者名 Kurosaka, Hiroshi
	NRID 1000081000734 1000081000734 ORCID 0000-0001-9529-1557 0000-0001-9529-1557 researchmap permalink kotaro_higashi kotaro_higashi Scopus Author ID 56150889600 56150889600 著者名 Higashi, Kotaro
	NRID 1000000714536 1000000714536 ORCID 0000-0001-6218-7112 0000-0001-6218-7112 researchmap permalink MasayaYamaguchi MasayaYamaguchi Scopus Author ID 16074710900 16074710900 著者名 Yamaguchi, Masaya
	NRID 1000020848246 1000020848246 researchmap permalink sayuri_ sayuri_ Scopus Author ID 57209978351 57209978351 著者名 Yamamoto, Sayuri
	NRID 1000030550941 1000030550941 ORCID 0000-0001-5303-4763 0000-0001-5303-4763 researchmap permalink opathone0141 opathone0141 Scopus Author ID 23097933700 23097933700 著者名 Inubushi, Toshihiro
	著者名 Nagata, Miho
	NRID 1000000886525 1000000886525 ORCID 0000-0002-0307-238X 0000-0002-0307-238X researchmap permalink yskishr yskishr 著者名 Ishihara, Yasuki
	著者名 Yonei, Ayumi
	NRID 1000060816312 1000060816312 ORCID 0000-0002-1739-4734 0000-0002-1739-4734 researchmap permalink y-miyashita y-miyashita Scopus Author ID 57208672131 57208672131 著者名 Miyashita, Yohei
	NRID 1000060527670 1000060527670 researchmap permalink osaka-med-yasano osaka-med-yasano Scopus Author ID 7401729290 7401729290 著者名 Asano, Yoshihiro
	NRID 1000030314313 1000030314313 researchmap permalink norio_sakai1121 norio_sakai1121 著者名 Sakai, Norio
	NRID 1000000397671 1000000397671 ORCID 0000-0002-5618-4721 0000-0002-5618-4721 researchmap permalink C4589 C4589 Scopus Author ID 35395964700 35395964700 著者名 Sakata, Yasushi
	NRID 1000050273694 1000050273694 researchmap permalink read0185239 read0185239 Scopus Author ID 7201354003 7201354003 著者名 Kawabata, Shigetada
	NRID 1000070294428 1000070294428 ORCID 0000-0002-4419-9643 0000-0002-4419-9643 researchmap permalink read0051793 read0051793 Scopus Author ID 55416765600 55416765600 著者名 Yamashiro, Takashi
内容	Nagata N., Kurosaka H., Higashi K., et al. Characteristic craniofacial defects associated with a novel USP9X truncation mutation. Human Genome Variation 11 (2024); https://doi.org/10.1038/s41439-024-00277-w.
抄録	Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities.
出版者	Springer Nature
収録物名	Human Genome Variation
巻(号)	11
刊行年月	2024-05-16
言語	英語
ハンドルURL	https://hdl.handle.net/11094/103548
eISSN	2054345X
関連情報 (isIdenticalTo)	DOI (出版社版) https://doi.org/10.1038/s41439-024-00277-w
アクセス権	open access
権利情報	This article is licensed under a Creative Commons Attribution 4.0 International License.
出版タイプ	Version of Record
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCMI資源タイプ	text
DCTERMS.bibliographicCitation	Human Genome Variation. 2024, 11
DC.title	Characteristic craniofacial defects associated with a novel USP9X truncation mutation
DC.creator	Nagata, Namiki
	Kurosaka, Hiroshi
	Higashi, Kotaro
	Yamaguchi, Masaya
	Yamamoto, Sayuri
	Inubushi, Toshihiro
	Nagata, Miho
	Ishihara, Yasuki
	Yonei, Ayumi
	Miyashita, Yohei
	Asano, Yoshihiro
	Sakai, Norio
	Sakata, Yasushi
	Kawabata, Shigetada
	Yamashiro, Takashi
DC.publisher	Springer Nature
DC.language' scheme='DCTERMS.RFC1766	英語
DC.type' scheme='DCTERMS.DCMIType	text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2024-05-16
DC.identifier	https://doi.org/10.1038/s41439-024-00277-w
DC.description	Nagata N., Kurosaka H., Higashi K., et al. Characteristic craniofacial defects associated with a novel USP9X truncation mutation. Human Genome Variation 11 (2024); https://doi.org/10.1038/s41439-024-00277-w.
DCTERMS.abstract	Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities.
DC.rights	This article is licensed under a Creative Commons Attribution 4.0 International License.
DC.format	103548
citation_title	Characteristic craniofacial defects associated with a novel USP9X truncation mutation
citation_author	Nagata, Namiki
	Kurosaka, Hiroshi
	Higashi, Kotaro
	Yamaguchi, Masaya
	Yamamoto, Sayuri
	Inubushi, Toshihiro
	Nagata, Miho
	Ishihara, Yasuki
	Yonei, Ayumi
	Miyashita, Yohei
	Asano, Yoshihiro
	Sakai, Norio
	Sakata, Yasushi
	Kawabata, Shigetada
	Yamashiro, Takashi
citation_publisher	Springer Nature
citation_language	英語
citation_date	2024-05-16
citation_journal_title	Human Genome Variation
citation_volume	11
citation_doi	https://doi.org/10.1038/s41439-024-00277-w
citation_public_url	https://hdl.handle.net/11094/103548

Characteristic craniofacial defects associated with a novel USP9X truncation mutation

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