Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families
Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited allelic lysosomal storage disorders due to impaired egress of free sialic acid from lysosomes. Fourteen pregnancies at risk of adult‐type free sialic acid storage disease, SD, w...
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| Veröffentlicht in: | Prenatal diagnosis 2001-05, Vol.21 (5), p.354-358 |
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| creator | Salomäki, Pirjo Aula, Nina Juvonen, Vesa Renlund, Martin Aula, Pertti |
| description | Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited allelic lysosomal storage disorders due to impaired egress of free sialic acid from lysosomes. Fourteen pregnancies at risk of adult‐type free sialic acid storage disease, SD, were monitored by sialic acid assays, genetic linkage or mutation detection analyses using chorionic villus samples. Three affected and 12 unaffected fetuses were identified. The first studies were based on the sialic acid assays alone, but the location of the gene enabled the use of genetic linkage analysis and, more recently, the identification of the SLC17A5 gene and disease‐causing mutations added yet another possibility for prenatal studies. A missense mutation 115C→T (R39C) is present in 95% of all Finnish SD alleles, providing an easy and reliable means of diagnostic studies. Both molecular and biochemical (sialic acid assay) studies can be used for prenatal diagnosis of free sialic acid storage diseases. Copyright © 2001 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/pd.68 |
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Fourteen pregnancies at risk of adult‐type free sialic acid storage disease, SD, were monitored by sialic acid assays, genetic linkage or mutation detection analyses using chorionic villus samples. Three affected and 12 unaffected fetuses were identified. The first studies were based on the sialic acid assays alone, but the location of the gene enabled the use of genetic linkage analysis and, more recently, the identification of the SLC17A5 gene and disease‐causing mutations added yet another possibility for prenatal studies. A missense mutation 115C→T (R39C) is present in 95% of all Finnish SD alleles, providing an easy and reliable means of diagnostic studies. Both molecular and biochemical (sialic acid assay) studies can be used for prenatal diagnosis of free sialic acid storage diseases. Copyright © 2001 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.68</identifier><identifier>PMID: 11360275</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Alleles ; Biological and medical sciences ; Carbohydrate Metabolism, Inborn Errors - diagnosis ; Carbohydrate Metabolism, Inborn Errors - genetics ; Carbohydrate Metabolism, Inborn Errors - metabolism ; Chorionic Villi Sampling ; Chromosome Mapping ; DNA - analysis ; DNA Mutational Analysis ; Female ; Finland ; free sialic acid storage disease ; Genetic Linkage ; Gynecology. Andrology. Obstetrics ; Haplotypes ; Humans ; Lysosomal Storage Diseases, Nervous System - diagnosis ; Lysosomal Storage Diseases, Nervous System - genetics ; Lysosomal Storage Diseases, Nervous System - metabolism ; Male ; Management. Prenatal diagnosis ; Medical sciences ; Microsatellite Repeats ; Mutation, Missense ; N-Acetylneuraminic Acid - genetics ; N-Acetylneuraminic Acid - metabolism ; Pedigree ; Polymerase Chain Reaction ; Pregnancy ; Pregnancy. Fetus. Placenta ; prenatal detection ; Salla disease</subject><ispartof>Prenatal diagnosis, 2001-05, Vol.21 (5), p.354-358</ispartof><rights>Copyright © 2001 John Wiley & Sons, Ltd.</rights><rights>2001 INIST-CNRS</rights><rights>Copyright 2001 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4038-e4379d078d8f45c6dd68ee31871474b4324db7331e48ed55992b80f6a053f0263</citedby><cites>FETCH-LOGICAL-c4038-e4379d078d8f45c6dd68ee31871474b4324db7331e48ed55992b80f6a053f0263</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.68$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.68$$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=1026411$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11360275$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Salomäki, Pirjo</creatorcontrib><creatorcontrib>Aula, Nina</creatorcontrib><creatorcontrib>Juvonen, Vesa</creatorcontrib><creatorcontrib>Renlund, Martin</creatorcontrib><creatorcontrib>Aula, Pertti</creatorcontrib><title>Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited allelic lysosomal storage disorders due to impaired egress of free sialic acid from lysosomes. Fourteen pregnancies at risk of adult‐type free sialic acid storage disease, SD, were monitored by sialic acid assays, genetic linkage or mutation detection analyses using chorionic villus samples. Three affected and 12 unaffected fetuses were identified. The first studies were based on the sialic acid assays alone, but the location of the gene enabled the use of genetic linkage analysis and, more recently, the identification of the SLC17A5 gene and disease‐causing mutations added yet another possibility for prenatal studies. A missense mutation 115C→T (R39C) is present in 95% of all Finnish SD alleles, providing an easy and reliable means of diagnostic studies. Both molecular and biochemical (sialic acid assay) studies can be used for prenatal diagnosis of free sialic acid storage diseases. Copyright © 2001 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Carbohydrate Metabolism, Inborn Errors - diagnosis</subject><subject>Carbohydrate Metabolism, Inborn Errors - genetics</subject><subject>Carbohydrate Metabolism, Inborn Errors - metabolism</subject><subject>Chorionic Villi Sampling</subject><subject>Chromosome Mapping</subject><subject>DNA - analysis</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Finland</subject><subject>free sialic acid storage disease</subject><subject>Genetic Linkage</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Lysosomal Storage Diseases, Nervous System - diagnosis</subject><subject>Lysosomal Storage Diseases, Nervous System - genetics</subject><subject>Lysosomal Storage Diseases, Nervous System - metabolism</subject><subject>Male</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats</subject><subject>Mutation, Missense</subject><subject>N-Acetylneuraminic Acid - genetics</subject><subject>N-Acetylneuraminic Acid - metabolism</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>prenatal detection</subject><subject>Salla disease</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpt0M1u1DAUBWALgeh06CsgL4CuUvwX22FXFRgqtTCgIpaWY1-3hsQZ7Iygb4_bGRUWrK51_elc6SB0RMkJJYS93vgTqR-hBSWdaghj_DFaEFrfXLf0AB2W8r0yzTr1FB1QyiVhql2gm3WGZGc7YA8zuDlOCU8BhwyAS7RDdNi66HGZp2yvAftYwBZ4g68hwXz3mzzu4-RuYIyuxpR56yMUHBNOMQEOdoxDXTxDT4IdChzt5xJ9ff_u6uxDc_FpdX52etE4QbhuQHDVeaK010G0TnovNQCnWlGhRC84E75XnFMQGnzbdh3rNQnSkpYHwiRfole73E2efm6hzGaMxcEw2ATTthhFNNda8wpf7qDLUykZgtnkONp8aygxd5WajTdSV_d8H7jtR_B_1b7DCl7sgS21gZBtcrH8k8akqHiJjnfsVxzg9v_HzPrt_cVmJ2OZ4feDtPmHkYqr1nz7uDLt-mp1Schn84X_ATGWmNk</recordid><startdate>200105</startdate><enddate>200105</enddate><creator>Salomäki, Pirjo</creator><creator>Aula, Nina</creator><creator>Juvonen, Vesa</creator><creator>Renlund, Martin</creator><creator>Aula, Pertti</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</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>7X8</scope></search><sort><creationdate>200105</creationdate><title>Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families</title><author>Salomäki, Pirjo ; Aula, Nina ; Juvonen, Vesa ; Renlund, Martin ; Aula, Pertti</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4038-e4379d078d8f45c6dd68ee31871474b4324db7331e48ed55992b80f6a053f0263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Carbohydrate Metabolism, Inborn Errors - diagnosis</topic><topic>Carbohydrate Metabolism, Inborn Errors - genetics</topic><topic>Carbohydrate Metabolism, Inborn Errors - metabolism</topic><topic>Chorionic Villi Sampling</topic><topic>Chromosome Mapping</topic><topic>DNA - analysis</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Finland</topic><topic>free sialic acid storage disease</topic><topic>Genetic Linkage</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Lysosomal Storage Diseases, Nervous System - diagnosis</topic><topic>Lysosomal Storage Diseases, Nervous System - genetics</topic><topic>Lysosomal Storage Diseases, Nervous System - metabolism</topic><topic>Male</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats</topic><topic>Mutation, Missense</topic><topic>N-Acetylneuraminic Acid - genetics</topic><topic>N-Acetylneuraminic Acid - metabolism</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>prenatal detection</topic><topic>Salla disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Salomäki, Pirjo</creatorcontrib><creatorcontrib>Aula, Nina</creatorcontrib><creatorcontrib>Juvonen, Vesa</creatorcontrib><creatorcontrib>Renlund, Martin</creatorcontrib><creatorcontrib>Aula, Pertti</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>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Salomäki, Pirjo</au><au>Aula, Nina</au><au>Juvonen, Vesa</au><au>Renlund, Martin</au><au>Aula, Pertti</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2001-05</date><risdate>2001</risdate><volume>21</volume><issue>5</issue><spage>354</spage><epage>358</epage><pages>354-358</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited allelic lysosomal storage disorders due to impaired egress of free sialic acid from lysosomes. Fourteen pregnancies at risk of adult‐type free sialic acid storage disease, SD, were monitored by sialic acid assays, genetic linkage or mutation detection analyses using chorionic villus samples. Three affected and 12 unaffected fetuses were identified. The first studies were based on the sialic acid assays alone, but the location of the gene enabled the use of genetic linkage analysis and, more recently, the identification of the SLC17A5 gene and disease‐causing mutations added yet another possibility for prenatal studies. A missense mutation 115C→T (R39C) is present in 95% of all Finnish SD alleles, providing an easy and reliable means of diagnostic studies. Both molecular and biochemical (sialic acid assay) studies can be used for prenatal diagnosis of free sialic acid storage diseases. Copyright © 2001 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>11360275</pmid><doi>10.1002/pd.68</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Alleles Biological and medical sciences Carbohydrate Metabolism, Inborn Errors - diagnosis Carbohydrate Metabolism, Inborn Errors - genetics Carbohydrate Metabolism, Inborn Errors - metabolism Chorionic Villi Sampling Chromosome Mapping DNA - analysis DNA Mutational Analysis Female Finland free sialic acid storage disease Genetic Linkage Gynecology. Andrology. Obstetrics Haplotypes Humans Lysosomal Storage Diseases, Nervous System - diagnosis Lysosomal Storage Diseases, Nervous System - genetics Lysosomal Storage Diseases, Nervous System - metabolism Male Management. Prenatal diagnosis Medical sciences Microsatellite Repeats Mutation, Missense N-Acetylneuraminic Acid - genetics N-Acetylneuraminic Acid - metabolism Pedigree Polymerase Chain Reaction Pregnancy Pregnancy. Fetus. Placenta prenatal detection Salla disease |
| title | Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families |
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