A novel acropectoral syndrome maps to chromosome 7q36
F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited...
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Veröffentlicht in: | Journal of medical genetics 2001-05, Vol.38 (5), p.304-309 |
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description | F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and all toes and 14 also have preaxial polydactyly of the hands and/or feet. In addition, 14 have a prominent upper sternum and/or a blind ending, inverted U shaped sinus in the anterior chest wall. Linkage studies and haplotype analysis carried out in 16 affected and nine unaffected members of this family showed that the underlying locus maps to a 6.4 cM interval on chromosome 7q36, between EN2and D7S2423, a region to which a locus for preaxial polydactyly and triphalangeal thumb-polysyndactyly has previously been mapped. Our findings expand the range of phenotypes associated with this locus to include total soft tissue syndactyly and sternal deformity, and suggest that F syndrome may be another manifestation of the same genetic entity. In mice, ectopic expression of the geneSonic hedgehog(Shh) in limb buds and lateral plate mesoderm during development causes preaxial polydactyly and sternal defects respectively, suggesting that misregulation ofSHH may underlie the unusual combination of abnormalities in this family. A recently proposed candidate gene for 7q36 linked preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor which may be an upstream regulator of SHH. |
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Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and all toes and 14 also have preaxial polydactyly of the hands and/or feet. In addition, 14 have a prominent upper sternum and/or a blind ending, inverted U shaped sinus in the anterior chest wall. Linkage studies and haplotype analysis carried out in 16 affected and nine unaffected members of this family showed that the underlying locus maps to a 6.4 cM interval on chromosome 7q36, between EN2and D7S2423, a region to which a locus for preaxial polydactyly and triphalangeal thumb-polysyndactyly has previously been mapped. Our findings expand the range of phenotypes associated with this locus to include total soft tissue syndactyly and sternal deformity, and suggest that F syndrome may be another manifestation of the same genetic entity. In mice, ectopic expression of the geneSonic hedgehog(Shh) in limb buds and lateral plate mesoderm during development causes preaxial polydactyly and sternal defects respectively, suggesting that misregulation ofSHH may underlie the unusual combination of abnormalities in this family. A recently proposed candidate gene for 7q36 linked preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor which may be an upstream regulator of SHH.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.38.5.304</identifier><identifier>PMID: 11333865</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Abnormalities, Multiple - genetics ; Abnormalities, Multiple - physiopathology ; Biological and medical sciences ; chromosome 7q36 ; Chromosome abnormalities ; Chromosome Mapping ; Chromosomes ; Chromosomes, Human, Pair 7 - genetics ; Diseases of the osteoarticular system ; Dysplasia ; F syndrome ; Familial diseases ; Female ; Fingers & toes ; Genes ; Genetic aspects ; Haplotypes - genetics ; Health aspects ; Humans ; Limb Deformities, Congenital - genetics ; Limb Deformities, Congenital - physiopathology ; Lod Score ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Mice ; Microsatellite Repeats - genetics ; Mutation ; Mutation - genetics ; Original ; Pedigree ; Phenotype ; preaxial polydactyly ; Recombination, Genetic - genetics ; sternal deformity ; Syndrome ; Turkey</subject><ispartof>Journal of medical genetics, 2001-05, Vol.38 (5), p.304-309</ispartof><rights>Journal of Medical Genetics</rights><rights>2001 INIST-CNRS</rights><rights>COPYRIGHT 2001 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2001 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b581t-4cbbf25b65a0b3b6126f4fa1df5210265dccfa2d2ad466ef4dc3d48ba3d35acd3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734869/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734869/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=982169$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11333865$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dundar, Munis</creatorcontrib><creatorcontrib>Gordon, Tilda M</creatorcontrib><creatorcontrib>Ozyazgan, Irfan</creatorcontrib><creatorcontrib>Oguzkaya, Fahri</creatorcontrib><creatorcontrib>Ozkul, Yusuf</creatorcontrib><creatorcontrib>Cooke, Alexander</creatorcontrib><creatorcontrib>Wilkinson, A Graham</creatorcontrib><creatorcontrib>Holloway, Susan</creatorcontrib><creatorcontrib>Goodman, Frances R</creatorcontrib><creatorcontrib>Tolmie, John L</creatorcontrib><title>A novel acropectoral syndrome maps to chromosome 7q36</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and all toes and 14 also have preaxial polydactyly of the hands and/or feet. In addition, 14 have a prominent upper sternum and/or a blind ending, inverted U shaped sinus in the anterior chest wall. Linkage studies and haplotype analysis carried out in 16 affected and nine unaffected members of this family showed that the underlying locus maps to a 6.4 cM interval on chromosome 7q36, between EN2and D7S2423, a region to which a locus for preaxial polydactyly and triphalangeal thumb-polysyndactyly has previously been mapped. Our findings expand the range of phenotypes associated with this locus to include total soft tissue syndactyly and sternal deformity, and suggest that F syndrome may be another manifestation of the same genetic entity. In mice, ectopic expression of the geneSonic hedgehog(Shh) in limb buds and lateral plate mesoderm during development causes preaxial polydactyly and sternal defects respectively, suggesting that misregulation ofSHH may underlie the unusual combination of abnormalities in this family. A recently proposed candidate gene for 7q36 linked preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor which may be an upstream regulator of SHH.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - physiopathology</subject><subject>Biological and medical sciences</subject><subject>chromosome 7q36</subject><subject>Chromosome abnormalities</subject><subject>Chromosome Mapping</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 7 - genetics</subject><subject>Diseases of the osteoarticular system</subject><subject>Dysplasia</subject><subject>F syndrome</subject><subject>Familial diseases</subject><subject>Female</subject><subject>Fingers & toes</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Haplotypes - genetics</subject><subject>Health aspects</subject><subject>Humans</subject><subject>Limb Deformities, Congenital - genetics</subject><subject>Limb Deformities, Congenital - physiopathology</subject><subject>Lod Score</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Mice</subject><subject>Microsatellite Repeats - genetics</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Original</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>preaxial polydactyly</subject><subject>Recombination, Genetic - genetics</subject><subject>sternal deformity</subject><subject>Syndrome</subject><subject>Turkey</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kUtvEzEUhS0EomlhxxqNhEQ3neC3nQ1SFJWC1JZFgQUby-NHOmHGTu1J1f57nGYUCqqQF5bv_Xzu4wDwBsEpQoR_WPXLKZFTNiWQPgMTRLmsOab0OZhAiHGN2YwcgMOcVxAiIhB_CQ7KR0IkZxPA5lWIt66rtElx7cwQk-6qfB9sir2rer3O1RArc12eMW9D4obwV-CF1112r8f7CHz_dPpt8bk-_3r2ZTE_rxsm0VBT0zQes4YzDRvScIS5p14j6xlGEHNmjfEaW6wt5dx5ag2xVDaaWMK0seQIfNzprjdN76xxYSjtqXVqe53uVdSt-jsT2mu1jLcKCUIlnxWB96NAijcblwfVt9m4rtPBxU1WAkohBKMFfPcPuIqbFMpwRUsiDDGBW7mTHbXUnVNt8LFUNUsXXCkeg_NtCc8FwzNI4Va0fgIvx7q-NU_xo3zxIufk_H5SBNXWbFXMVkQqpsgD_vbxdv7Ao7uPhtLZ6M4nHUyb99xMYvSwo7HLNg_ubp_V6ZfiggimLn8sFLqCPy8vLqi6Kvzxjm_61f8b_A3rk801</recordid><startdate>20010501</startdate><enddate>20010501</enddate><creator>Dundar, Munis</creator><creator>Gordon, Tilda M</creator><creator>Ozyazgan, Irfan</creator><creator>Oguzkaya, Fahri</creator><creator>Ozkul, Yusuf</creator><creator>Cooke, Alexander</creator><creator>Wilkinson, A Graham</creator><creator>Holloway, Susan</creator><creator>Goodman, Frances R</creator><creator>Tolmie, John L</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20010501</creationdate><title>A novel acropectoral syndrome maps to chromosome 7q36</title><author>Dundar, Munis ; Gordon, Tilda M ; Ozyazgan, Irfan ; Oguzkaya, Fahri ; Ozkul, Yusuf ; Cooke, Alexander ; Wilkinson, A Graham ; Holloway, Susan ; Goodman, Frances R ; Tolmie, John L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b581t-4cbbf25b65a0b3b6126f4fa1df5210265dccfa2d2ad466ef4dc3d48ba3d35acd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - physiopathology</topic><topic>Biological and medical sciences</topic><topic>chromosome 7q36</topic><topic>Chromosome abnormalities</topic><topic>Chromosome Mapping</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 7 - genetics</topic><topic>Diseases of the osteoarticular system</topic><topic>Dysplasia</topic><topic>F syndrome</topic><topic>Familial diseases</topic><topic>Female</topic><topic>Fingers & toes</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Haplotypes - genetics</topic><topic>Health aspects</topic><topic>Humans</topic><topic>Limb Deformities, Congenital - genetics</topic><topic>Limb Deformities, Congenital - physiopathology</topic><topic>Lod Score</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Mice</topic><topic>Microsatellite Repeats - genetics</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Original</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>preaxial polydactyly</topic><topic>Recombination, Genetic - genetics</topic><topic>sternal deformity</topic><topic>Syndrome</topic><topic>Turkey</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dundar, Munis</creatorcontrib><creatorcontrib>Gordon, Tilda M</creatorcontrib><creatorcontrib>Ozyazgan, Irfan</creatorcontrib><creatorcontrib>Oguzkaya, Fahri</creatorcontrib><creatorcontrib>Ozkul, Yusuf</creatorcontrib><creatorcontrib>Cooke, Alexander</creatorcontrib><creatorcontrib>Wilkinson, A Graham</creatorcontrib><creatorcontrib>Holloway, Susan</creatorcontrib><creatorcontrib>Goodman, Frances R</creatorcontrib><creatorcontrib>Tolmie, John L</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</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 Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science 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>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dundar, Munis</au><au>Gordon, Tilda M</au><au>Ozyazgan, Irfan</au><au>Oguzkaya, Fahri</au><au>Ozkul, Yusuf</au><au>Cooke, Alexander</au><au>Wilkinson, A Graham</au><au>Holloway, Susan</au><au>Goodman, Frances R</au><au>Tolmie, John L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel acropectoral syndrome maps to chromosome 7q36</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2001-05-01</date><risdate>2001</risdate><volume>38</volume><issue>5</issue><spage>304</spage><epage>309</epage><pages>304-309</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and all toes and 14 also have preaxial polydactyly of the hands and/or feet. In addition, 14 have a prominent upper sternum and/or a blind ending, inverted U shaped sinus in the anterior chest wall. Linkage studies and haplotype analysis carried out in 16 affected and nine unaffected members of this family showed that the underlying locus maps to a 6.4 cM interval on chromosome 7q36, between EN2and D7S2423, a region to which a locus for preaxial polydactyly and triphalangeal thumb-polysyndactyly has previously been mapped. Our findings expand the range of phenotypes associated with this locus to include total soft tissue syndactyly and sternal deformity, and suggest that F syndrome may be another manifestation of the same genetic entity. In mice, ectopic expression of the geneSonic hedgehog(Shh) in limb buds and lateral plate mesoderm during development causes preaxial polydactyly and sternal defects respectively, suggesting that misregulation ofSHH may underlie the unusual combination of abnormalities in this family. A recently proposed candidate gene for 7q36 linked preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor which may be an upstream regulator of SHH.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>11333865</pmid><doi>10.1136/jmg.38.5.304</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Biological and medical sciences chromosome 7q36 Chromosome abnormalities Chromosome Mapping Chromosomes Chromosomes, Human, Pair 7 - genetics Diseases of the osteoarticular system Dysplasia F syndrome Familial diseases Female Fingers & toes Genes Genetic aspects Haplotypes - genetics Health aspects Humans Limb Deformities, Congenital - genetics Limb Deformities, Congenital - physiopathology Lod Score Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Mice Microsatellite Repeats - genetics Mutation Mutation - genetics Original Pedigree Phenotype preaxial polydactyly Recombination, Genetic - genetics sternal deformity Syndrome Turkey |
title | A novel acropectoral syndrome maps to chromosome 7q36 |
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