A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities and short stature; it is classified into three subtypes according to genetics and clinical manifestations. We report a Han Chinese family wit...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Annals of dermatology 2022-04, Vol.34 (2), p.139-143
Hauptverfasser:	Fang, Xiaokai, Yang, Qing
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

container_end_page	143
container_issue	2
container_start_page	139
container_title	Annals of dermatology
container_volume	34
creator	Fang, Xiaokai Yang, Qing
description	Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities and short stature; it is classified into three subtypes according to genetics and clinical manifestations. We report a Han Chinese family with 2 TRPS type III patients, the proband and his mother, with typical clinical presentation. There were also 3 ankylosing spondylitis (AS) patients in this family, the proband's mother and 2 uncles. A missense mutation, c.2762G>A (p.Arg921Gln), in the transcriptional repressor GATA binding 1 ( ) gene was detected in the proband and his mother. The association between TRPS and AS and the diagnostic criteria for TRPS are discussed.
doi_str_mv	10.5021/ad.2022.34.2.139
format	Article
fullrecord	<record><control><sourceid>pubmed_cross</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8989904</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>35450306</sourcerecordid><originalsourceid>FETCH-LOGICAL-c2789-38a727a81cf15669180dd6e82c507857987fe64eabdedf7103415aa0842451803</originalsourceid><addsrcrecordid>eNpVkU9v1DAQxS0EotvCnRPyF9h0_C-xL0irirYrtQJ1t2drNnY2hsSO4hQU8eXJqlDBaUaaeb_Rm0fIBwaFAs4u0RUcOC-ELHjBhHlFVhxArYU28jVZMWBibUBXZ-Q8528AJeMVe0vOhJIKBJQr8mtD70POPmZP758mnEKKNES6f_i6Y6cG6TX2oZvpzzC1dD-Guk1jG2IaWuwwHj12dDdHN6be0_08eLrdbummrlM_YAze0cNMN_H73KUc4pHuhhTd3IUp5HfkTYNd9u__1AvyeP15f3W7vvtys73a3K1rXmmzmMGKV6hZ3TBVloZpcK70mtcKKq0qo6vGl9LjwXnXVAyEZAoRtORSLcvignx65g5Ph9672sdpxM4OY-hxnG3CYP-fxNDaY_phtdHGgFwA8Ayox5Tz6JsXLQN7CsKis6cgrJCW2yWIRfLx35svgr-fF78B8kGFnw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis</title><source>KoreaMed Synapse</source><source>KoreaMed Open Access</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Fang, Xiaokai ; Yang, Qing</creator><creatorcontrib>Fang, Xiaokai ; Yang, Qing</creatorcontrib><description>Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities and short stature; it is classified into three subtypes according to genetics and clinical manifestations. We report a Han Chinese family with 2 TRPS type III patients, the proband and his mother, with typical clinical presentation. There were also 3 ankylosing spondylitis (AS) patients in this family, the proband's mother and 2 uncles. A missense mutation, c.2762G>A (p.Arg921Gln), in the transcriptional repressor GATA binding 1 ( ) gene was detected in the proband and his mother. The association between TRPS and AS and the diagnostic criteria for TRPS are discussed.</description><identifier>ISSN: 1013-9087</identifier><identifier>EISSN: 2005-3894</identifier><identifier>DOI: 10.5021/ad.2022.34.2.139</identifier><identifier>PMID: 35450306</identifier><language>eng</language><publisher>Korea (South): The Korean Dermatological Association; The Korean Society for Investigative Dermatology</publisher><subject>Case Report</subject><ispartof>Annals of dermatology, 2022-04, Vol.34 (2), p.139-143</ispartof><rights>Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology.</rights><rights>Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology 2022 The Korean Dermatological Association and The Korean Society for Investigative Dermatology</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c2789-38a727a81cf15669180dd6e82c507857987fe64eabdedf7103415aa0842451803</citedby><cites>FETCH-LOGICAL-c2789-38a727a81cf15669180dd6e82c507857987fe64eabdedf7103415aa0842451803</cites><orcidid>0000-0002-7867-8845 ; 0000-0003-4423-8873</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989904/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989904/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35450306$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fang, Xiaokai</creatorcontrib><creatorcontrib>Yang, Qing</creatorcontrib><title>A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis</title><title>Annals of dermatology</title><addtitle>Ann Dermatol</addtitle><description>Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities and short stature; it is classified into three subtypes according to genetics and clinical manifestations. We report a Han Chinese family with 2 TRPS type III patients, the proband and his mother, with typical clinical presentation. There were also 3 ankylosing spondylitis (AS) patients in this family, the proband's mother and 2 uncles. A missense mutation, c.2762G>A (p.Arg921Gln), in the transcriptional repressor GATA binding 1 ( ) gene was detected in the proband and his mother. The association between TRPS and AS and the diagnostic criteria for TRPS are discussed.</description><subject>Case Report</subject><issn>1013-9087</issn><issn>2005-3894</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><recordid>eNpVkU9v1DAQxS0EotvCnRPyF9h0_C-xL0irirYrtQJ1t2drNnY2hsSO4hQU8eXJqlDBaUaaeb_Rm0fIBwaFAs4u0RUcOC-ELHjBhHlFVhxArYU28jVZMWBibUBXZ-Q8528AJeMVe0vOhJIKBJQr8mtD70POPmZP758mnEKKNES6f_i6Y6cG6TX2oZvpzzC1dD-Guk1jG2IaWuwwHj12dDdHN6be0_08eLrdbummrlM_YAze0cNMN_H73KUc4pHuhhTd3IUp5HfkTYNd9u__1AvyeP15f3W7vvtys73a3K1rXmmzmMGKV6hZ3TBVloZpcK70mtcKKq0qo6vGl9LjwXnXVAyEZAoRtORSLcvignx65g5Ph9672sdpxM4OY-hxnG3CYP-fxNDaY_phtdHGgFwA8Ayox5Tz6JsXLQN7CsKis6cgrJCW2yWIRfLx35svgr-fF78B8kGFnw</recordid><startdate>20220401</startdate><enddate>20220401</enddate><creator>Fang, Xiaokai</creator><creator>Yang, Qing</creator><general>The Korean Dermatological Association; The Korean Society for Investigative Dermatology</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-7867-8845</orcidid><orcidid>https://orcid.org/0000-0003-4423-8873</orcidid></search><sort><creationdate>20220401</creationdate><title>A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis</title><author>Fang, Xiaokai ; Yang, Qing</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2789-38a727a81cf15669180dd6e82c507857987fe64eabdedf7103415aa0842451803</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Case Report</topic><toplevel>online_resources</toplevel><creatorcontrib>Fang, Xiaokai</creatorcontrib><creatorcontrib>Yang, Qing</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Annals of dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fang, Xiaokai</au><au>Yang, Qing</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis</atitle><jtitle>Annals of dermatology</jtitle><addtitle>Ann Dermatol</addtitle><date>2022-04-01</date><risdate>2022</risdate><volume>34</volume><issue>2</issue><spage>139</spage><epage>143</epage><pages>139-143</pages><issn>1013-9087</issn><eissn>2005-3894</eissn><abstract>Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities and short stature; it is classified into three subtypes according to genetics and clinical manifestations. We report a Han Chinese family with 2 TRPS type III patients, the proband and his mother, with typical clinical presentation. There were also 3 ankylosing spondylitis (AS) patients in this family, the proband's mother and 2 uncles. A missense mutation, c.2762G>A (p.Arg921Gln), in the transcriptional repressor GATA binding 1 ( ) gene was detected in the proband and his mother. The association between TRPS and AS and the diagnostic criteria for TRPS are discussed.</abstract><cop>Korea (South)</cop><pub>The Korean Dermatological Association; The Korean Society for Investigative Dermatology</pub><pmid>35450306</pmid><doi>10.5021/ad.2022.34.2.139</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-7867-8845</orcidid><orcidid>https://orcid.org/0000-0003-4423-8873</orcidid><oa>free_for_read</oa></addata></record>
fulltext	fulltext
identifier	ISSN: 1013-9087
ispartof	Annals of dermatology, 2022-04, Vol.34 (2), p.139-143
issn	1013-9087 2005-3894
language	eng
recordid	cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8989904
source	KoreaMed Synapse; KoreaMed Open Access; EZB-FREE-00999 freely available EZB journals; PubMed Central
subjects	Case Report
title	A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis
url	https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-26T15%3A53%3A09IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-pubmed_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20Missense%20Mutation%20in%20TRPS1%20in%20a%20Family%20with%20Trichorhinophalangeal%20Syndrome%20Type%20III%20Accompanied%20by%20Ankylosing%20Spondylitis&rft.jtitle=Annals%20of%20dermatology&rft.au=Fang,%20Xiaokai&rft.date=2022-04-01&rft.volume=34&rft.issue=2&rft.spage=139&rft.epage=143&rft.pages=139-143&rft.issn=1013-9087&rft.eissn=2005-3894&rft_id=info:doi/10.5021/ad.2022.34.2.139&rft_dat=%3Cpubmed_cross%3E35450306%3C/pubmed_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/35450306&rfr_iscdi=true