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A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report

Background Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were ide...

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Published in:	BMC pediatrics 2023-08, Vol.23 (1), p.1-424, Article 424
Main Authors:	Yang, Xiaodong, Pu, Siyu, Xiang, Bo, Tang, Xueyang, Chen, Jing
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Language:	English
Subjects:	Abnormalities Amino acids Ankle Bones Case Report Case reports Congenital anomaly Families & family life Fingers & toes Gene mutations Health aspects Identification and classification Ligands Medical prognosis Morphology Mutation Pediatric research Pediatrics Physiological aspects Polydactyly Proteins SMO Software Tibia Tibial hemimelia
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description	Background Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified. Case presentation Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. Conclusions Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling. Keywords: Tibial hemimelia, Congenital anomaly, SMO, Polydactyly
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In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified. Case presentation Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. Conclusions Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling. Keywords: Tibial hemimelia, Congenital anomaly, SMO, Polydactyly</description><identifier>ISSN: 1471-2431</identifier><identifier>EISSN: 1471-2431</identifier><identifier>DOI: 10.1186/s12887-023-04167-y</identifier><identifier>PMID: 37626311</identifier><language>eng</language><publisher>London: BioMed Central Ltd</publisher><subject>Abnormalities ; Amino acids ; Ankle ; Bones ; Case Report ; Case reports ; Congenital anomaly ; Families & family life ; Fingers & toes ; Gene mutations ; Health aspects ; Identification and classification ; Ligands ; Medical prognosis ; Morphology ; Mutation ; Pediatric research ; Pediatrics ; Physiological aspects ; Polydactyly ; Proteins ; SMO ; Software ; Tibia ; Tibial hemimelia</subject><ispartof>BMC pediatrics, 2023-08, Vol.23 (1), p.1-424, Article 424</ispartof><rights>COPYRIGHT 2023 BioMed Central Ltd.</rights><rights>2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>BioMed Central Ltd., part of Springer Nature 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c523t-f625b781d4e60c6ef64128d5f52c6be727c115c9d36262c57e2452546a4660243</cites><orcidid>0000-0001-5540-0878</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/PMC10463978/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2865401606?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793</link.rule.ids></links><search><creatorcontrib>Yang, Xiaodong</creatorcontrib><creatorcontrib>Pu, Siyu</creatorcontrib><creatorcontrib>Xiang, Bo</creatorcontrib><creatorcontrib>Tang, Xueyang</creatorcontrib><creatorcontrib>Chen, Jing</creatorcontrib><title>A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report</title><title>BMC pediatrics</title><description>Background Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified. Case presentation Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. Conclusions Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling. Keywords: Tibial hemimelia, Congenital anomaly, SMO, Polydactyly</description><subject>Abnormalities</subject><subject>Amino acids</subject><subject>Ankle</subject><subject>Bones</subject><subject>Case Report</subject><subject>Case reports</subject><subject>Congenital anomaly</subject><subject>Families & family life</subject><subject>Fingers & toes</subject><subject>Gene mutations</subject><subject>Health aspects</subject><subject>Identification and classification</subject><subject>Ligands</subject><subject>Medical prognosis</subject><subject>Morphology</subject><subject>Mutation</subject><subject>Pediatric research</subject><subject>Pediatrics</subject><subject>Physiological aspects</subject><subject>Polydactyly</subject><subject>Proteins</subject><subject>SMO</subject><subject>Software</subject><subject>Tibia</subject><subject>Tibial hemimelia</subject><issn>1471-2431</issn><issn>1471-2431</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkk1vEzEQhlcIREvhD3CyhITKYYu_veFSRRUflYp6KJwtxzubdeS1g-2tlH-P01TQIOTDWOPXjz3zTtO8JfiCkE5-zIR2nWoxZS3mRKp296w5JVyRlnJGnj_ZnzSvct5gTFTH5cvmhClJJSPktLlbohDvwaM8xVhG6NH53ffbD2gbXShomospLgbkArIxrCG4YjwqbuVqGGFyE3hnPiGDrMmAEmxjKq-bF4PxGd48xrPm55fPP66-tTe3X6-vljetFZSVdpBUrFRHeg4SWwmD5LWgXgyCWrkCRZUlRNhFz-pnqRUKKBdUcGm4lLiWddZcH7h9NBu9TW4yaaejcfohEdNam1Sc9aBB1dJNTwZVAdTgxcIOIBQWjPYMk76yLg-s7byaoLcQSjL-CHp8Etyo1_FeE8wlW6iuEs4fCSn-miEXPblswXsTIM5Z007U7ndYkCp99490E-cUaq-qSgqOicTyr2ptagUuDLE-bPdQvaz-UdVRtmdd_EdVV1_dqZ7B4Gr-6ML7JxdGML6MOfp573M-FtKD0KaYc4LhTzcI1vsB1IcB1HUA9cMA6h37DW_dx_k</recordid><startdate>20230825</startdate><enddate>20230825</enddate><creator>Yang, Xiaodong</creator><creator>Pu, Siyu</creator><creator>Xiang, Bo</creator><creator>Tang, Xueyang</creator><creator>Chen, Jing</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</general><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0001-5540-0878</orcidid></search><sort><creationdate>20230825</creationdate><title>A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report</title><author>Yang, Xiaodong ; Pu, Siyu ; Xiang, Bo ; Tang, Xueyang ; Chen, Jing</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c523t-f625b781d4e60c6ef64128d5f52c6be727c115c9d36262c57e2452546a4660243</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Abnormalities</topic><topic>Amino acids</topic><topic>Ankle</topic><topic>Bones</topic><topic>Case Report</topic><topic>Case reports</topic><topic>Congenital anomaly</topic><topic>Families & family life</topic><topic>Fingers & toes</topic><topic>Gene mutations</topic><topic>Health aspects</topic><topic>Identification and classification</topic><topic>Ligands</topic><topic>Medical prognosis</topic><topic>Morphology</topic><topic>Mutation</topic><topic>Pediatric research</topic><topic>Pediatrics</topic><topic>Physiological aspects</topic><topic>Polydactyly</topic><topic>Proteins</topic><topic>SMO</topic><topic>Software</topic><topic>Tibia</topic><topic>Tibial hemimelia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yang, Xiaodong</creatorcontrib><creatorcontrib>Pu, Siyu</creatorcontrib><creatorcontrib>Xiang, Bo</creatorcontrib><creatorcontrib>Tang, Xueyang</creatorcontrib><creatorcontrib>Chen, Jing</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest - Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>BMC pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yang, Xiaodong</au><au>Pu, Siyu</au><au>Xiang, Bo</au><au>Tang, Xueyang</au><au>Chen, Jing</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report</atitle><jtitle>BMC pediatrics</jtitle><date>2023-08-25</date><risdate>2023</risdate><volume>23</volume><issue>1</issue><spage>1</spage><epage>424</epage><pages>1-424</pages><artnum>424</artnum><issn>1471-2431</issn><eissn>1471-2431</eissn><abstract>Background Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified. Case presentation Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. Conclusions Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling. Keywords: Tibial hemimelia, Congenital anomaly, SMO, Polydactyly</abstract><cop>London</cop><pub>BioMed Central Ltd</pub><pmid>37626311</pmid><doi>10.1186/s12887-023-04167-y</doi><orcidid>https://orcid.org/0000-0001-5540-0878</orcidid><oa>free_for_read</oa></addata></record>
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subjects	Abnormalities Amino acids Ankle Bones Case Report Case reports Congenital anomaly Families & family life Fingers & toes Gene mutations Health aspects Identification and classification Ligands Medical prognosis Morphology Mutation Pediatric research Pediatrics Physiological aspects Polydactyly Proteins SMO Software Tibia Tibial hemimelia
title	A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report
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