Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report
Roudgari H, Farndon PA, Murray AD, Hardy C, Miedzybrodzka Z. Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report. The relationship of mutations in the patched gene PTCH and nevoid basal cell carcinom...
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| Veröffentlicht in: | Clinical genetics 2012-07, Vol.82 (1), p.71-76 |
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| creator | Roudgari, H Farndon, P A Murray, A D Hardy, C Miedzybrodzka, Z |
| description | Roudgari H, Farndon PA, Murray AD, Hardy C, Miedzybrodzka Z. Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report.
The relationship of mutations in the patched gene PTCH and nevoid basal cell carcinoma (NBCC) or Gorlin syndrome is well established. Animal studies have implicated the hedgehog‐patched signalling pathway in neurulation and neural tube defects (NTDs). Spina bifida occulta and bifid vertebrae are well recognized in NBCCS, but there appears to be only one report of open spina bifida. We report a father and two sons with a truncating PTCH mutation and the major features of NBCCS. One son had open thoracic spina bifida and the other had an occipital meningocoele. We believe this to be the first report of cranial NTD in NBCCS and suggest that consideration be given to including PTCH analysis in genetic association studies in NTDs as the hedgehog pathway is integral to normal human neurulation. |
| doi_str_mv | 10.1111/j.1399-0004.2011.01725.x |
| format | Article |
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The relationship of mutations in the patched gene PTCH and nevoid basal cell carcinoma (NBCC) or Gorlin syndrome is well established. Animal studies have implicated the hedgehog‐patched signalling pathway in neurulation and neural tube defects (NTDs). Spina bifida occulta and bifid vertebrae are well recognized in NBCCS, but there appears to be only one report of open spina bifida. We report a father and two sons with a truncating PTCH mutation and the major features of NBCCS. One son had open thoracic spina bifida and the other had an occipital meningocoele. We believe this to be the first report of cranial NTD in NBCCS and suggest that consideration be given to including PTCH analysis in genetic association studies in NTDs as the hedgehog pathway is integral to normal human neurulation.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2011.01725.x</identifier><identifier>PMID: 21651513</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adult ; basal cell carcinoma ; Basal Cell Nevus Syndrome - genetics ; Basal Cell Nevus Syndrome - pathology ; Biological and medical sciences ; Birth defects ; Codon, Nonsense ; Dermatology ; DNA Mutational Analysis ; Encephalocele - genetics ; Encephalocele - pathology ; Exons ; Fundamental and applied biological sciences. Psychology ; Genes ; Genetics of eukaryotes. Biological and molecular evolution ; Gorlin syndrome ; Haploinsufficiency ; Humans ; Male ; Medical genetics ; Medical sciences ; meningocele ; Middle Aged ; mild mental retardation ; Molecular and cellular biology ; Neural Tube - metabolism ; Neural Tube - pathology ; neural tube defects ; nevoid basal cell carcinoma ; Patched Receptors ; Patched-1 Receptor ; PTCH gene ; Receptors, Cell Surface - genetics ; Spina bifida ; Spina Bifida Occulta - genetics ; Spina Bifida Occulta - pathology ; Spinal cord ; Tumors of the skin and soft tissue. Premalignant lesions</subject><ispartof>Clinical genetics, 2012-07, Vol.82 (1), p.71-76</ispartof><rights>2011 John Wiley & Sons A/S</rights><rights>2015 INIST-CNRS</rights><rights>2011 John Wiley & Sons A/S.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4655-f570d8d2411f930c7b1630401ac3145d1e45328e36468c750d763aa1cbdaaf303</citedby><cites>FETCH-LOGICAL-c4655-f570d8d2411f930c7b1630401ac3145d1e45328e36468c750d763aa1cbdaaf303</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1399-0004.2011.01725.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.2011.01725.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25975418$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21651513$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Roudgari, H</creatorcontrib><creatorcontrib>Farndon, P A</creatorcontrib><creatorcontrib>Murray, A D</creatorcontrib><creatorcontrib>Hardy, C</creatorcontrib><creatorcontrib>Miedzybrodzka, Z</creatorcontrib><title>Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Roudgari H, Farndon PA, Murray AD, Hardy C, Miedzybrodzka Z. Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report.
The relationship of mutations in the patched gene PTCH and nevoid basal cell carcinoma (NBCC) or Gorlin syndrome is well established. Animal studies have implicated the hedgehog‐patched signalling pathway in neurulation and neural tube defects (NTDs). Spina bifida occulta and bifid vertebrae are well recognized in NBCCS, but there appears to be only one report of open spina bifida. We report a father and two sons with a truncating PTCH mutation and the major features of NBCCS. One son had open thoracic spina bifida and the other had an occipital meningocoele. We believe this to be the first report of cranial NTD in NBCCS and suggest that consideration be given to including PTCH analysis in genetic association studies in NTDs as the hedgehog pathway is integral to normal human neurulation.</description><subject>Adult</subject><subject>basal cell carcinoma</subject><subject>Basal Cell Nevus Syndrome - genetics</subject><subject>Basal Cell Nevus Syndrome - pathology</subject><subject>Biological and medical sciences</subject><subject>Birth defects</subject><subject>Codon, Nonsense</subject><subject>Dermatology</subject><subject>DNA Mutational Analysis</subject><subject>Encephalocele - genetics</subject><subject>Encephalocele - pathology</subject><subject>Exons</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Gorlin syndrome</subject><subject>Haploinsufficiency</subject><subject>Humans</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>meningocele</subject><subject>Middle Aged</subject><subject>mild mental retardation</subject><subject>Molecular and cellular biology</subject><subject>Neural Tube - metabolism</subject><subject>Neural Tube - pathology</subject><subject>neural tube defects</subject><subject>nevoid basal cell carcinoma</subject><subject>Patched Receptors</subject><subject>Patched-1 Receptor</subject><subject>PTCH gene</subject><subject>Receptors, Cell Surface - genetics</subject><subject>Spina bifida</subject><subject>Spina Bifida Occulta - genetics</subject><subject>Spina Bifida Occulta - pathology</subject><subject>Spinal cord</subject><subject>Tumors of the skin and soft tissue. Premalignant lesions</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNktGO1CAUhonRuOPqKxgSY-JNK5RSionZbMbZceNGTdSs8YacAeoytnSENjvzJj6u1BnHxHghNwcO33848IMQpiSnaTxf55RJmRFCyrwglOaEioLn2ztodty4i2YpyEzSip2gBzGu05IJLu-jk4JWnHLKZujHZcTvzz_OXy9eYfDYdZs-DOAHrMEbZ2Cw-Kv1Fjd9wN6OAVo8jCuLjW2sHuIZngfwLmUTjoebPoB2-l8kdh4DbqBz7Q7fuuEGL_vQpmTceRP6zr5I2xqixcFOPTxE9xpoo310iKfo08Ui9ZldvVtezs-vMl1WnGcNF8TUpigpbSQjWqzSdUlJKGhGS26oLTkrasuqsqq14MSIigFQvTIADSPsFD3b192E_vto46A6F7VtW_C2H6OihBWCcSZZQp_8ha77MfjUXaKorAvC66lgvad06GMMtlGb4DoIuwSpyT21VpNJajJJTe6pX-6pbZI-PhwwrjprjsLfdiXg6QGAqKFt0ttrF_9wXApe0jpxL_fcrWvt7r8bUPPlYpolfbbXuzjY7VEP4ZuqRPpD6vrtUsnrD3Px-c2F-sJ-Avqkw0U</recordid><startdate>201207</startdate><enddate>201207</enddate><creator>Roudgari, H</creator><creator>Farndon, P A</creator><creator>Murray, A D</creator><creator>Hardy, C</creator><creator>Miedzybrodzka, Z</creator><general>Blackwell Publishing Ltd</general><general>Wiley-Blackwell</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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201207</creationdate><title>Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report</title><author>Roudgari, H ; Farndon, P A ; Murray, A D ; Hardy, C ; Miedzybrodzka, Z</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4655-f570d8d2411f930c7b1630401ac3145d1e45328e36468c750d763aa1cbdaaf303</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>basal cell carcinoma</topic><topic>Basal Cell Nevus Syndrome - genetics</topic><topic>Basal Cell Nevus Syndrome - pathology</topic><topic>Biological and medical sciences</topic><topic>Birth defects</topic><topic>Codon, Nonsense</topic><topic>Dermatology</topic><topic>DNA Mutational Analysis</topic><topic>Encephalocele - genetics</topic><topic>Encephalocele - pathology</topic><topic>Exons</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Gorlin syndrome</topic><topic>Haploinsufficiency</topic><topic>Humans</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>meningocele</topic><topic>Middle Aged</topic><topic>mild mental retardation</topic><topic>Molecular and cellular biology</topic><topic>Neural Tube - metabolism</topic><topic>Neural Tube - pathology</topic><topic>neural tube defects</topic><topic>nevoid basal cell carcinoma</topic><topic>Patched Receptors</topic><topic>Patched-1 Receptor</topic><topic>PTCH gene</topic><topic>Receptors, Cell Surface - genetics</topic><topic>Spina bifida</topic><topic>Spina Bifida Occulta - genetics</topic><topic>Spina Bifida Occulta - pathology</topic><topic>Spinal cord</topic><topic>Tumors of the skin and soft tissue. Premalignant lesions</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Roudgari, H</creatorcontrib><creatorcontrib>Farndon, P A</creatorcontrib><creatorcontrib>Murray, A D</creatorcontrib><creatorcontrib>Hardy, C</creatorcontrib><creatorcontrib>Miedzybrodzka, Z</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>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Roudgari, H</au><au>Farndon, P A</au><au>Murray, A D</au><au>Hardy, C</au><au>Miedzybrodzka, Z</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2012-07</date><risdate>2012</risdate><volume>82</volume><issue>1</issue><spage>71</spage><epage>76</epage><pages>71-76</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Roudgari H, Farndon PA, Murray AD, Hardy C, Miedzybrodzka Z. Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report.
The relationship of mutations in the patched gene PTCH and nevoid basal cell carcinoma (NBCC) or Gorlin syndrome is well established. Animal studies have implicated the hedgehog‐patched signalling pathway in neurulation and neural tube defects (NTDs). Spina bifida occulta and bifid vertebrae are well recognized in NBCCS, but there appears to be only one report of open spina bifida. We report a father and two sons with a truncating PTCH mutation and the major features of NBCCS. One son had open thoracic spina bifida and the other had an occipital meningocoele. We believe this to be the first report of cranial NTD in NBCCS and suggest that consideration be given to including PTCH analysis in genetic association studies in NTDs as the hedgehog pathway is integral to normal human neurulation.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>21651513</pmid><doi>10.1111/j.1399-0004.2011.01725.x</doi><tpages>6</tpages></addata></record> |
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| subjects | Adult basal cell carcinoma Basal Cell Nevus Syndrome - genetics Basal Cell Nevus Syndrome - pathology Biological and medical sciences Birth defects Codon, Nonsense Dermatology DNA Mutational Analysis Encephalocele - genetics Encephalocele - pathology Exons Fundamental and applied biological sciences. Psychology Genes Genetics of eukaryotes. Biological and molecular evolution Gorlin syndrome Haploinsufficiency Humans Male Medical genetics Medical sciences meningocele Middle Aged mild mental retardation Molecular and cellular biology Neural Tube - metabolism Neural Tube - pathology neural tube defects nevoid basal cell carcinoma Patched Receptors Patched-1 Receptor PTCH gene Receptors, Cell Surface - genetics Spina bifida Spina Bifida Occulta - genetics Spina Bifida Occulta - pathology Spinal cord Tumors of the skin and soft tissue. Premalignant lesions |
| title | Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report |
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