Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome

Kurosaka, Hiroshi; Yamamoto, Sayuri; Hirasawa, Kyoko; Yanagishita, Tomoe; Fujioka, Kaoru; Yagasaki, Hideaki; Nagata, Miho; Ishihara, Yasuki; Yonei, Ayumi; Asano, Yoshihiro; Nagata, Namiki; Tsujimoto, Takayuki; Inubushi, Toshihiro; Yamamoto, Toshiyuki; Sakai, Norio; Yamashiro, Takashi

doi:https://doi.org/10.1002/ajmg.a.63225

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome

Kurosaka, Hiroshi; Yamamoto, Sayuri; Hirasawa, Kyoko et al.

American Journal of Medical Genetics, Part A, 2023, 191(7), 1984-1989

Number of Access:2,362（2025-10-19 17:29 Counts）

Identifier to cite or link to this item: https://hdl.handle.net/11094/91341

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Title	Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome
Creator	NRID 1000020509369 1000020509369 ORCID 0000-0002-8956-5467 0000-0002-8956-5467 researchmap permalink kurosakahiroshi kurosakahiroshi Scopus Author ID 11839162500 11839162500 CreatorName Kurosaka, Hiroshi
	NRID 1000020848246 1000020848246 CreatorName Yamamoto, Sayuri
	NRID 1000050316709 1000050316709 CreatorName Hirasawa, Kyoko
	CreatorName Yanagishita, Tomoe
	CreatorName Fujioka, Kaoru
	NRID 1000000377540 1000000377540 CreatorName Yagasaki, Hideaki
	CreatorName Nagata, Miho
	NRID 1000000886525 1000000886525 ORCID 0000-0002-0307-238X 0000-0002-0307-238X researchmap permalink yskishr yskishr CreatorName Ishihara, Yasuki
	CreatorName Yonei, Ayumi
	NRID 1000060527670 1000060527670 researchmap permalink osaka-med-yasano osaka-med-yasano Scopus Author ID 7401729290 7401729290 CreatorName Asano, Yoshihiro
	CreatorName Nagata, Namiki
	CreatorName Tsujimoto, Takayuki
	NRID 1000030550941 1000030550941 researchmap permalink opathone0141 opathone0141 Scopus Author ID 23097933700 23097933700 ORCID 0000-0001-5303-4763 0000-0001-5303-4763 CreatorName Inubushi, Toshihiro
	NRID 1000020252851 1000020252851 CreatorName Yamamoto, Toshiyuki
	NRID 1000030314313 1000030314313 ORCID 0000-0003-0722-4800 0000-0003-0722-4800 researchmap permalink norio_sakai1121 norio_sakai1121 Scopus Author ID 56672384000 56672384000 CreatorName Sakai, Norio
	NRID 1000070294428 1000070294428 ORCID 0000-0002-4419-9643 0000-0002-4419-9643 researchmap permalink read0051793 read0051793 Scopus Author ID 55416765600 55416765600 CreatorName Yamashiro, Takashi
Subject	craniofacial defect
	SATB2-associated syndrome
	tooth anomaly
Description	This is the peer reviewed version of the following article: Hiroshi Kurosaka, Sayuri Yamamoto, Kyoko Hirasawa et al., "Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome", American Journal of Medical Genetics, Part A, May 2023, which has been published in final form at https://doi.org/10.1002/ajmg.a.63225. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
Abstract	Craniofacial defects are one of the most frequent phenotypes in syndromic diseases. More than 30% of syndromic diseases are associated with craniofacial defects, which are important for the precise diagnosis of systemic diseases. Special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome (SAS) is a rare syndromic disease associated with a wide variety of phenotypes, including intellectual disability and craniofacial defects. Among them, dental anomalies are the most frequently observed phenotype and thus becomes an important diagnostic criterion for SAS. In this report, we demonstrate three Japanese cases of genetically diagnosed SAS with detailed craniofacial phenotypes. The cases showed multiple dental problems, which have been previously reported to be linked to SAS, including abnormal crown morphologies and pulp stones. One case showed a characteristic enamel pearl at the root furcation. These phenotypes add new insights for differentiating SAS from other disorders.
Publisher	John Wiley and Sons Inc
Source Title	American Journal of Medical Genetics, Part A
Volume (Issue)	191(7)
Page	1984-1989
Date of Issued	2023-05-04
Language	English
Handle URL	https://hdl.handle.net/11094/91341
PISSN	15524825
eISSN	15524833
NCID	AA11815067
Relation.isVersionOf	DOI (Publisher Version) https://doi.org/10.1002/ajmg.a.63225
Access Rights	open access
CopyRight	© 2023 Wiley Periodicals LLC.
oaire:version	Accepted Manuscript
Category	学術雑誌論文 Journal Article

Resource Type	journal article
Local Type	Journal Article
DCMI Type	Text
DCTERMS.bibliographicCitation	American Journal of Medical Genetics, Part A. 2023, 191(7), p. 1984-1989
DC.title	Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome
DC.creator	Kurosaka, Hiroshi
	Yamamoto, Sayuri
	Hirasawa, Kyoko
	Yanagishita, Tomoe
	Fujioka, Kaoru
	Yagasaki, Hideaki
	Nagata, Miho
	Ishihara, Yasuki
	Yonei, Ayumi
	Asano, Yoshihiro
	Nagata, Namiki
	Tsujimoto, Takayuki
	Inubushi, Toshihiro
	Yamamoto, Toshiyuki
	Sakai, Norio
	Yamashiro, Takashi
DC.publisher	John Wiley and Sons Inc
DC.language' scheme='DCTERMS.RFC1766	English
DC.type' scheme='DCTERMS.DCMIType	Text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2023-05-04
DC.identifier	https://doi.org/10.1002/ajmg.a.63225
DC.subject	craniofacial defect
	SATB2-associated syndrome
	tooth anomaly
DC.description	This is the peer reviewed version of the following article: Hiroshi Kurosaka, Sayuri Yamamoto, Kyoko Hirasawa et al., "Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome", American Journal of Medical Genetics, Part A, May 2023, which has been published in final form at https://doi.org/10.1002/ajmg.a.63225. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
DCTERMS.abstract	Craniofacial defects are one of the most frequent phenotypes in syndromic diseases. More than 30% of syndromic diseases are associated with craniofacial defects, which are important for the precise diagnosis of systemic diseases. Special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome (SAS) is a rare syndromic disease associated with a wide variety of phenotypes, including intellectual disability and craniofacial defects. Among them, dental anomalies are the most frequently observed phenotype and thus becomes an important diagnostic criterion for SAS. In this report, we demonstrate three Japanese cases of genetically diagnosed SAS with detailed craniofacial phenotypes. The cases showed multiple dental problems, which have been previously reported to be linked to SAS, including abnormal crown morphologies and pulp stones. One case showed a characteristic enamel pearl at the root furcation. These phenotypes add new insights for differentiating SAS from other disorders.
DC.rights	© 2023 Wiley Periodicals LLC.
DC.format	91341
citation_title	Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome
citation_author	Kurosaka, Hiroshi
	Yamamoto, Sayuri
	Hirasawa, Kyoko
	Yanagishita, Tomoe
	Fujioka, Kaoru
	Yagasaki, Hideaki
	Nagata, Miho
	Ishihara, Yasuki
	Yonei, Ayumi
	Asano, Yoshihiro
	Nagata, Namiki
	Tsujimoto, Takayuki
	Inubushi, Toshihiro
	Yamamoto, Toshiyuki
	Sakai, Norio
	Yamashiro, Takashi
citation_publisher	John Wiley and Sons Inc
citation_language	English
citation_date	2023-05-04
citation_journal_title	American Journal of Medical Genetics, Part A
citation_volume	191
citation_issue	7
citation_firstpage	1984
citation_lastpage	1989
citation_doi	https://doi.org/10.1002/ajmg.a.63225
citation_public_url	https://hdl.handle.net/11094/91341

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome

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