Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome
Tuberous sclerosis (TSC) is an autosomal dominant trait with variable expression most frequently characterised by neurological impairment (seizures and learning difficulties), by dermatological manifestations (facial angiofibromas, periungual fibromas, shagreen patches, and hypopigmented macules), a...
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| Veröffentlicht in: | Journal of medical genetics 2002-02, Vol.39 (2), p.136-141 |
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| creator | Dauwerse, J G Bouman, K van Essen, A J van der Hout, A H Kolsters, G Breuning, M H Peters, D J M |
| description | Tuberous sclerosis (TSC) is an autosomal dominant trait with variable expression most frequently characterised by neurological impairment (seizures and learning difficulties), by dermatological manifestations (facial angiofibromas, periungual fibromas, shagreen patches, and hypopigmented macules), and by renal manifestations including angiomyolipomas and cystic disease. 3 The second gene for TSC, TSC2, maps to chromosome 16p13.3 tail to tail with the major gene for autosomal dominant polycystic kidney disease (ADPKD), the PKD1 gene. The substrate of the transporter is not known but the highest mRNA expression has been seen in lung tissue. 17 In general, deletions spanning TSC2 and PKD1 have been implicated in a severe and infantile form of polycystic kidney disease in TSC. 35 Progression of renal cystic disease is apparently accelerated when, in addition to inactivation of the PKD1 gene, TSC2 function is lost. |
| doi_str_mv | 10.1136/jmg.39.2.136 |
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| fullrecord | <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1735030</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A83679378</galeid><sourcerecordid>A83679378</sourcerecordid><originalsourceid>FETCH-LOGICAL-b522t-9355fa30c0284174f099a0793a93f4a06a7f4aa9a1e3fc8d301a111086f479e03</originalsourceid><addsrcrecordid>eNp9kU1vEzEQhi1ERdPCjTOyxIELG_yxa68vSGEpFFFKK0o5Ws6uvXHI2sH20ubf4yhRC1KFfBjNzKN3ZvwC8ByjKcaUvVkO_ZSKKZnm5BGY4JLVBSNl-RhMECKkIJWgh-AoxiVCmHLMnoBDjGvKKGMTcD5rgzeqtWoFu030MfloI7QOKrhWyWqX4I1NC5gWGl59a0hx8fk9hq13yfajHyPstdMwblwX_KCfggOjVlE_28dj8P3DyVVzWpx9_fipmZ0V84qQVAhaVUZR1CJSl5iXBgmhEBdUCWpKhZjiOSihsKamrTuKsMIYo5qZkguN6DF4u9Ndj_NBd21eM6iVXAc7qLCRXln5b8fZhez9b4k5rRDdCrzcCwT_a9QxyaUfg8s7Z6TGBBHG6ky93lG9WmlpnfFZrN1enDW908bm8iz_ZV6db_HiATy_Tg-2fYjfy2cPYgza3B2AkdyaK7O5kgpJZE4y_uLvo-_hvZv3821M-vaur8JPyTjllTy_buQF_fHlXXN9KS8z_2rHz4fl_0f_AXFrupQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1781202668</pqid></control><display><type>article</type><title>Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Dauwerse, J G ; Bouman, K ; van Essen, A J ; van der Hout, A H ; Kolsters, G ; Breuning, M H ; Peters, D J M</creator><creatorcontrib>Dauwerse, J G ; Bouman, K ; van Essen, A J ; van der Hout, A H ; Kolsters, G ; Breuning, M H ; Peters, D J M</creatorcontrib><description>Tuberous sclerosis (TSC) is an autosomal dominant trait with variable expression most frequently characterised by neurological impairment (seizures and learning difficulties), by dermatological manifestations (facial angiofibromas, periungual fibromas, shagreen patches, and hypopigmented macules), and by renal manifestations including angiomyolipomas and cystic disease. 3 The second gene for TSC, TSC2, maps to chromosome 16p13.3 tail to tail with the major gene for autosomal dominant polycystic kidney disease (ADPKD), the PKD1 gene. The substrate of the transporter is not known but the highest mRNA expression has been seen in lung tissue. 17 In general, deletions spanning TSC2 and PKD1 have been implicated in a severe and infantile form of polycystic kidney disease in TSC. 35 Progression of renal cystic disease is apparently accelerated when, in addition to inactivation of the PKD1 gene, TSC2 function is lost.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.39.2.136</identifier><identifier>PMID: 11836366</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Abnormalities, Multiple - genetics ; acrofacial dysostosis ; ADPKD ; Adult ; AFD ; autosomal dominant polycystic kidney disease ; Chromosome Deletion ; Chromosomes ; Chromosomes, Human, Pair 16 - genetics ; Cloning ; Craniofacial dysostosis ; Cysts ; Dysostoses - genetics ; Fingers & toes ; Genes ; Genetic aspects ; Hemodialysis ; Humans ; Hypertension ; Kidney diseases ; Letter to JMG ; Male ; Medical imaging ; Polycystic Kidney, Autosomal Dominant - genetics ; Proteins - genetics ; Repressor Proteins - genetics ; Syndrome ; TRPP Cation Channels ; TSC ; TSC2-PKD1 contiguous gene syndrome ; tuberous sclerosis ; Tuberous Sclerosis - genetics ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins</subject><ispartof>Journal of medical genetics, 2002-02, Vol.39 (2), p.136-141</ispartof><rights>Copyright 2002 Journal of Medical Genetics</rights><rights>COPYRIGHT 2002 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2002 Copyright 2002 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b522t-9355fa30c0284174f099a0793a93f4a06a7f4aa9a1e3fc8d301a111086f479e03</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/PMC1735030/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735030/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11836366$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dauwerse, J G</creatorcontrib><creatorcontrib>Bouman, K</creatorcontrib><creatorcontrib>van Essen, A J</creatorcontrib><creatorcontrib>van der Hout, A H</creatorcontrib><creatorcontrib>Kolsters, G</creatorcontrib><creatorcontrib>Breuning, M H</creatorcontrib><creatorcontrib>Peters, D J M</creatorcontrib><title>Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Tuberous sclerosis (TSC) is an autosomal dominant trait with variable expression most frequently characterised by neurological impairment (seizures and learning difficulties), by dermatological manifestations (facial angiofibromas, periungual fibromas, shagreen patches, and hypopigmented macules), and by renal manifestations including angiomyolipomas and cystic disease. 3 The second gene for TSC, TSC2, maps to chromosome 16p13.3 tail to tail with the major gene for autosomal dominant polycystic kidney disease (ADPKD), the PKD1 gene. The substrate of the transporter is not known but the highest mRNA expression has been seen in lung tissue. 17 In general, deletions spanning TSC2 and PKD1 have been implicated in a severe and infantile form of polycystic kidney disease in TSC. 35 Progression of renal cystic disease is apparently accelerated when, in addition to inactivation of the PKD1 gene, TSC2 function is lost.</description><subject>Abnormalities, Multiple - genetics</subject><subject>acrofacial dysostosis</subject><subject>ADPKD</subject><subject>Adult</subject><subject>AFD</subject><subject>autosomal dominant polycystic kidney disease</subject><subject>Chromosome Deletion</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 16 - genetics</subject><subject>Cloning</subject><subject>Craniofacial dysostosis</subject><subject>Cysts</subject><subject>Dysostoses - genetics</subject><subject>Fingers & toes</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Hemodialysis</subject><subject>Humans</subject><subject>Hypertension</subject><subject>Kidney diseases</subject><subject>Letter to JMG</subject><subject>Male</subject><subject>Medical imaging</subject><subject>Polycystic Kidney, Autosomal Dominant - genetics</subject><subject>Proteins - genetics</subject><subject>Repressor Proteins - genetics</subject><subject>Syndrome</subject><subject>TRPP Cation Channels</subject><subject>TSC</subject><subject>TSC2-PKD1 contiguous gene syndrome</subject><subject>tuberous sclerosis</subject><subject>Tuberous Sclerosis - genetics</subject><subject>Tuberous Sclerosis Complex 2 Protein</subject><subject>Tumor Suppressor Proteins</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</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>eNp9kU1vEzEQhi1ERdPCjTOyxIELG_yxa68vSGEpFFFKK0o5Ws6uvXHI2sH20ubf4yhRC1KFfBjNzKN3ZvwC8ByjKcaUvVkO_ZSKKZnm5BGY4JLVBSNl-RhMECKkIJWgh-AoxiVCmHLMnoBDjGvKKGMTcD5rgzeqtWoFu030MfloI7QOKrhWyWqX4I1NC5gWGl59a0hx8fk9hq13yfajHyPstdMwblwX_KCfggOjVlE_28dj8P3DyVVzWpx9_fipmZ0V84qQVAhaVUZR1CJSl5iXBgmhEBdUCWpKhZjiOSihsKamrTuKsMIYo5qZkguN6DF4u9Ndj_NBd21eM6iVXAc7qLCRXln5b8fZhez9b4k5rRDdCrzcCwT_a9QxyaUfg8s7Z6TGBBHG6ky93lG9WmlpnfFZrN1enDW908bm8iz_ZV6db_HiATy_Tg-2fYjfy2cPYgza3B2AkdyaK7O5kgpJZE4y_uLvo-_hvZv3821M-vaur8JPyTjllTy_buQF_fHlXXN9KS8z_2rHz4fl_0f_AXFrupQ</recordid><startdate>20020201</startdate><enddate>20020201</enddate><creator>Dauwerse, J G</creator><creator>Bouman, K</creator><creator>van Essen, A J</creator><creator>van der Hout, A H</creator><creator>Kolsters, G</creator><creator>Breuning, M H</creator><creator>Peters, D J M</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>BMJ 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contiguous gene syndrome</title><author>Dauwerse, J G ; Bouman, K ; van Essen, A J ; van der Hout, A H ; Kolsters, G ; Breuning, M H ; Peters, D J M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b522t-9355fa30c0284174f099a0793a93f4a06a7f4aa9a1e3fc8d301a111086f479e03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>acrofacial dysostosis</topic><topic>ADPKD</topic><topic>Adult</topic><topic>AFD</topic><topic>autosomal dominant polycystic kidney disease</topic><topic>Chromosome Deletion</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 16 - genetics</topic><topic>Cloning</topic><topic>Craniofacial dysostosis</topic><topic>Cysts</topic><topic>Dysostoses - genetics</topic><topic>Fingers & toes</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Hemodialysis</topic><topic>Humans</topic><topic>Hypertension</topic><topic>Kidney diseases</topic><topic>Letter to JMG</topic><topic>Male</topic><topic>Medical imaging</topic><topic>Polycystic Kidney, Autosomal Dominant - genetics</topic><topic>Proteins - genetics</topic><topic>Repressor Proteins - genetics</topic><topic>Syndrome</topic><topic>TRPP Cation Channels</topic><topic>TSC</topic><topic>TSC2-PKD1 contiguous gene syndrome</topic><topic>tuberous sclerosis</topic><topic>Tuberous Sclerosis - genetics</topic><topic>Tuberous Sclerosis Complex 2 Protein</topic><topic>Tumor Suppressor Proteins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dauwerse, J G</creatorcontrib><creatorcontrib>Bouman, K</creatorcontrib><creatorcontrib>van Essen, A J</creatorcontrib><creatorcontrib>van der Hout, A H</creatorcontrib><creatorcontrib>Kolsters, G</creatorcontrib><creatorcontrib>Breuning, M H</creatorcontrib><creatorcontrib>Peters, 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Genet</addtitle><date>2002-02-01</date><risdate>2002</risdate><volume>39</volume><issue>2</issue><spage>136</spage><epage>141</epage><pages>136-141</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Tuberous sclerosis (TSC) is an autosomal dominant trait with variable expression most frequently characterised by neurological impairment (seizures and learning difficulties), by dermatological manifestations (facial angiofibromas, periungual fibromas, shagreen patches, and hypopigmented macules), and by renal manifestations including angiomyolipomas and cystic disease. 3 The second gene for TSC, TSC2, maps to chromosome 16p13.3 tail to tail with the major gene for autosomal dominant polycystic kidney disease (ADPKD), the PKD1 gene. The substrate of the transporter is not known but the highest mRNA expression has been seen in lung tissue. 17 In general, deletions spanning TSC2 and PKD1 have been implicated in a severe and infantile form of polycystic kidney disease in TSC. 35 Progression of renal cystic disease is apparently accelerated when, in addition to inactivation of the PKD1 gene, TSC2 function is lost.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>11836366</pmid><doi>10.1136/jmg.39.2.136</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Abnormalities, Multiple - genetics acrofacial dysostosis ADPKD Adult AFD autosomal dominant polycystic kidney disease Chromosome Deletion Chromosomes Chromosomes, Human, Pair 16 - genetics Cloning Craniofacial dysostosis Cysts Dysostoses - genetics Fingers & toes Genes Genetic aspects Hemodialysis Humans Hypertension Kidney diseases Letter to JMG Male Medical imaging Polycystic Kidney, Autosomal Dominant - genetics Proteins - genetics Repressor Proteins - genetics Syndrome TRPP Cation Channels TSC TSC2-PKD1 contiguous gene syndrome tuberous sclerosis Tuberous Sclerosis - genetics Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Proteins |
| title | Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome |
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