A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family
Deletions in the heparan sulphate proteoglycan encoding glypican 3 (GPC3) gene have recently been documented in several Simpson-Golabi-Behmel syndrome (SGBS) families. However, no precisely defined SGBS mutation has been published. We report here a 13 base pair deletion which causes a frameshift and...
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| Veröffentlicht in: | Journal of medical genetics 1999-01, Vol.36 (1), p.57-58 |
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| creator | Xuan, Jian Y Hughes-Benzie, Rhiannon M MacKenzie, Alex E |
| description | Deletions in the heparan sulphate proteoglycan encoding glypican 3 (GPC3) gene have recently been documented in several Simpson-Golabi-Behmel syndrome (SGBS) families. However, no precisely defined SGBS mutation has been published. We report here a 13 base pair deletion which causes a frameshift and premature termination of the GPC3 gene in the Dutch-Canadian SGBS family in whom the trait was originally mapped. Our analysis shows that a discrete GPC3 disabling mutation is sufficient to cause SGBS. Furthermore, our finding of a GPC3 normal daughter of an SGBS carrier with skeletal abnormalities and Wilms tumour raises the possibility of a trans effect from the maternal carrier in SGBS kindreds. |
| doi_str_mv | 10.1136/jmg.36.1.57 |
| format | Article |
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However, no precisely defined SGBS mutation has been published. We report here a 13 base pair deletion which causes a frameshift and premature termination of the GPC3 gene in the Dutch-Canadian SGBS family in whom the trait was originally mapped. Our analysis shows that a discrete GPC3 disabling mutation is sufficient to cause SGBS. 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However, no precisely defined SGBS mutation has been published. We report here a 13 base pair deletion which causes a frameshift and premature termination of the GPC3 gene in the Dutch-Canadian SGBS family in whom the trait was originally mapped. Our analysis shows that a discrete GPC3 disabling mutation is sufficient to cause SGBS. Furthermore, our finding of a GPC3 normal daughter of an SGBS carrier with skeletal abnormalities and Wilms tumour raises the possibility of a trans effect from the maternal carrier in SGBS kindreds.</description><subject>Biological and medical sciences</subject><subject>Bone and Bones - abnormalities</subject><subject>Canada</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>Cloning</subject><subject>Complex syndromes</subject><subject>DNA polymerase</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>glypican 3</subject><subject>Glypicans</subject><subject>Heparan Sulfate Proteoglycans</subject><subject>Heparitin Sulfate - blood</subject><subject>Heparitin Sulfate - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Males</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Proteoglycans - blood</subject><subject>Proteoglycans - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>Sequence Deletion</subject><subject>Short Report</subject><subject>Simpson-Golabi-Behmel syndrome</subject><subject>Syndrome</subject><subject>Tumorigenesis</subject><subject>Wilms Tumor - complications</subject><subject>Wilms tumour</subject><subject>X Chromosome - genetics</subject><issn>0022-2593</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9kcuP0zAYxCMEWsrCiTOSJRAXlGI7fiQXpKUL5bHioQWuluN8aV0cu9gJov89rlp1gQOnT_L8PJrRFMVDgueEVOL5ZljNKzEncy5vFTPCRF0KytjtYoYxpSXlTXW3uJfSBmNSSSLOirOm4bgSclaEC5QG7RyyfoSYRjta7VAHDkYbfH5F4xrQ8tOiQivwgIyeEiR0bYdtCr5cBqdbW76E9QAOpZ3vYhhg_02jy2k063Khve6s9qjXg3W7-8WdXrsED473vPj6-tWXxZvy6uPy7eLiqmw5pmPJWsyJgJ4wJmsBUuKqNaxvTK1pz6isTNf2Nat6IwQHQXVDaAdtR3Hb9LKrq_PixcF3O7UDdAb8GLVT22gHHXcqaKv-Vrxdq1X4qYgUtOEkGzw9GsTwY4I0qsEmA85pD2FKSjSc77kMPv4H3IQp-lwue9V5IC7Ennp2oEwMKUXoT1EIVvsVVV5R5UMUl5l-9Gf6E3ucLetPjrpORrs-am9surEUrGFi36E8YDaN8Osk6_hdZRPJ1YdvC8U-1-_fXS9rdXnTuR02_833G7lBwRI</recordid><startdate>199901</startdate><enddate>199901</enddate><creator>Xuan, Jian Y</creator><creator>Hughes-Benzie, Rhiannon M</creator><creator>MacKenzie, Alex E</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>199901</creationdate><title>A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family</title><author>Xuan, Jian Y ; Hughes-Benzie, Rhiannon M ; MacKenzie, Alex E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b502t-4b0516ef144786e7703bc4f9c8a2f4273cdbf843fc665e62a912debd20b9f7d83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Biological and medical sciences</topic><topic>Bone and Bones - abnormalities</topic><topic>Canada</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>Cloning</topic><topic>Complex syndromes</topic><topic>DNA polymerase</topic><topic>Female</topic><topic>Frameshift Mutation</topic><topic>glypican 3</topic><topic>Glypicans</topic><topic>Heparan Sulfate Proteoglycans</topic><topic>Heparitin Sulfate - blood</topic><topic>Heparitin Sulfate - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Males</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Proteoglycans - blood</topic><topic>Proteoglycans - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Sequence Deletion</topic><topic>Short Report</topic><topic>Simpson-Golabi-Behmel syndrome</topic><topic>Syndrome</topic><topic>Tumorigenesis</topic><topic>Wilms Tumor - complications</topic><topic>Wilms tumour</topic><topic>X Chromosome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Xuan, Jian Y</creatorcontrib><creatorcontrib>Hughes-Benzie, Rhiannon M</creatorcontrib><creatorcontrib>MacKenzie, Alex E</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>Xuan, Jian Y</au><au>Hughes-Benzie, Rhiannon M</au><au>MacKenzie, Alex E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1999-01</date><risdate>1999</risdate><volume>36</volume><issue>1</issue><spage>57</spage><epage>58</epage><pages>57-58</pages><issn>0022-2593</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Deletions in the heparan sulphate proteoglycan encoding glypican 3 (GPC3) gene have recently been documented in several Simpson-Golabi-Behmel syndrome (SGBS) families. However, no precisely defined SGBS mutation has been published. We report here a 13 base pair deletion which causes a frameshift and premature termination of the GPC3 gene in the Dutch-Canadian SGBS family in whom the trait was originally mapped. Our analysis shows that a discrete GPC3 disabling mutation is sufficient to cause SGBS. Furthermore, our finding of a GPC3 normal daughter of an SGBS carrier with skeletal abnormalities and Wilms tumour raises the possibility of a trans effect from the maternal carrier in SGBS kindreds.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>9950367</pmid><doi>10.1136/jmg.36.1.57</doi><tpages>2</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biological and medical sciences Bone and Bones - abnormalities Canada Chromosomes, Human, Pair 11 - genetics Cloning Complex syndromes DNA polymerase Female Frameshift Mutation glypican 3 Glypicans Heparan Sulfate Proteoglycans Heparitin Sulfate - blood Heparitin Sulfate - genetics Humans Male Males Medical genetics Medical sciences Mutation Pedigree Proteoglycans - blood Proteoglycans - genetics Sequence Analysis, DNA Sequence Deletion Short Report Simpson-Golabi-Behmel syndrome Syndrome Tumorigenesis Wilms Tumor - complications Wilms tumour X Chromosome - genetics |
| title | A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family |
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