A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia
Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene. A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia. Mutation in her LPL gene was...
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| Veröffentlicht in: | Clinica chimica acta 2006-06, Vol.368 (1), p.120-124 |
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| creator | Chan, Angel On-kei But, Wai-man Lau, Gene Tze-chin Tse, Wing-yee Shek, Chi-chung |
| description | Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the
LPL gene.
A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia. Mutation in her
LPL gene was screened by using polymerase chain reaction and direct DNA sequencing.
Homozygous missense mutations (L252V) were detected in the
LPL gene of the patient. A novel nonsense mutation (C27X) was also identified.
Our finding supports L252V mutation in the
LPL gene is a common mutation in Chinese with familial hyperchylomicronemia syndrome. DNA-based diagnosis in this syndrome is definitive. It saves the need for heparin-infusion test, which carries the risk of hemorrhage, and the measurement of LPL activity, which is tedious and is not widely available. |
| doi_str_mv | 10.1016/j.cca.2005.12.020 |
| format | Article |
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LPL gene.
A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia. Mutation in her
LPL gene was screened by using polymerase chain reaction and direct DNA sequencing.
Homozygous missense mutations (L252V) were detected in the
LPL gene of the patient. A novel nonsense mutation (C27X) was also identified.
Our finding supports L252V mutation in the
LPL gene is a common mutation in Chinese with familial hyperchylomicronemia syndrome. DNA-based diagnosis in this syndrome is definitive. It saves the need for heparin-infusion test, which carries the risk of hemorrhage, and the measurement of LPL activity, which is tedious and is not widely available.</description><identifier>ISSN: 0009-8981</identifier><identifier>EISSN: 1873-3492</identifier><identifier>DOI: 10.1016/j.cca.2005.12.020</identifier><identifier>PMID: 16460718</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Asian Continental Ancestry Group ; Base Sequence ; Codon, Nonsense - genetics ; Cysteine - genetics ; Female ; Genotype ; Humans ; Hyperchylomicronemia ; Hypertriglyceridemia ; Hypertriglyceridemia - congenital ; Hypertriglyceridemia - genetics ; Infant, Newborn ; Leucine - genetics ; Lipid Metabolism ; Lipoprotein Lipase - genetics ; Lipoprotein lipase deficiency ; LPL gene ; Male ; Mutation ; Pedigree</subject><ispartof>Clinica chimica acta, 2006-06, Vol.368 (1), p.120-124</ispartof><rights>2005 Elsevier B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c351t-5e3f82e562ee55331e1fe4f8c1ecc58d393449c986427490ee6cb34877295c1a3</citedby><cites>FETCH-LOGICAL-c351t-5e3f82e562ee55331e1fe4f8c1ecc58d393449c986427490ee6cb34877295c1a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.cca.2005.12.020$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16460718$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chan, Angel On-kei</creatorcontrib><creatorcontrib>But, Wai-man</creatorcontrib><creatorcontrib>Lau, Gene Tze-chin</creatorcontrib><creatorcontrib>Tse, Wing-yee</creatorcontrib><creatorcontrib>Shek, Chi-chung</creatorcontrib><title>A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia</title><title>Clinica chimica acta</title><addtitle>Clin Chim Acta</addtitle><description>Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the
LPL gene.
A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia. Mutation in her
LPL gene was screened by using polymerase chain reaction and direct DNA sequencing.
Homozygous missense mutations (L252V) were detected in the
LPL gene of the patient. A novel nonsense mutation (C27X) was also identified.
Our finding supports L252V mutation in the
LPL gene is a common mutation in Chinese with familial hyperchylomicronemia syndrome. DNA-based diagnosis in this syndrome is definitive. It saves the need for heparin-infusion test, which carries the risk of hemorrhage, and the measurement of LPL activity, which is tedious and is not widely available.</description><subject>Asian Continental Ancestry Group</subject><subject>Base Sequence</subject><subject>Codon, Nonsense - genetics</subject><subject>Cysteine - genetics</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Hyperchylomicronemia</subject><subject>Hypertriglyceridemia</subject><subject>Hypertriglyceridemia - congenital</subject><subject>Hypertriglyceridemia - genetics</subject><subject>Infant, Newborn</subject><subject>Leucine - genetics</subject><subject>Lipid Metabolism</subject><subject>Lipoprotein Lipase - genetics</subject><subject>Lipoprotein lipase deficiency</subject><subject>LPL gene</subject><subject>Male</subject><subject>Mutation</subject><subject>Pedigree</subject><issn>0009-8981</issn><issn>1873-3492</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMFqGzEURUVJady0H5BN0Kq7mepJmhmJrIJJ2oKhWTSQnVA0b2KZGY0jyQn--8jY0F1ASDw49_J0CLkEVgOD9uemds7WnLGmBl4zzj6RBahOVEJqfkYWjDFdKa3gnHxNaVNGyVr4Qs6hlS3rQC3I4w0N8yuO5Q4Jy6HTLtvs50B9oHmNdHW_os8Y8DBbulz7gIUKOAebkb75vKbr_RZjjv553DuMvsfJ22_k82DHhN9P7wV5uLv9t_xdrf7--rO8WVVONJCrBsWgODYtR2waIQBhQDkoB-hco3qhhZTaadVK3knNEFv3JKTqOq4bB1ZckB_H3m2cX3aYspl8cjiOtqy4S6ZVxYvSvIBwBF2cU4o4mG30k417A8wcdJqNKTrNQacBbkqsZK5O5bunCfv_iZO_AlwfASxffPUYTXIeg8PeR3TZ9LP_oP4dVROEwA</recordid><startdate>20060601</startdate><enddate>20060601</enddate><creator>Chan, Angel On-kei</creator><creator>But, Wai-man</creator><creator>Lau, Gene Tze-chin</creator><creator>Tse, Wing-yee</creator><creator>Shek, Chi-chung</creator><general>Elsevier B.V</general><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>20060601</creationdate><title>A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia</title><author>Chan, Angel On-kei ; But, Wai-man ; Lau, Gene Tze-chin ; Tse, Wing-yee ; Shek, Chi-chung</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c351t-5e3f82e562ee55331e1fe4f8c1ecc58d393449c986427490ee6cb34877295c1a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Asian Continental Ancestry Group</topic><topic>Base Sequence</topic><topic>Codon, Nonsense - genetics</topic><topic>Cysteine - genetics</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>Hyperchylomicronemia</topic><topic>Hypertriglyceridemia</topic><topic>Hypertriglyceridemia - congenital</topic><topic>Hypertriglyceridemia - genetics</topic><topic>Infant, Newborn</topic><topic>Leucine - genetics</topic><topic>Lipid Metabolism</topic><topic>Lipoprotein Lipase - genetics</topic><topic>Lipoprotein lipase deficiency</topic><topic>LPL gene</topic><topic>Male</topic><topic>Mutation</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chan, Angel On-kei</creatorcontrib><creatorcontrib>But, Wai-man</creatorcontrib><creatorcontrib>Lau, Gene Tze-chin</creatorcontrib><creatorcontrib>Tse, Wing-yee</creatorcontrib><creatorcontrib>Shek, Chi-chung</creatorcontrib><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>Clinica chimica acta</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chan, Angel On-kei</au><au>But, Wai-man</au><au>Lau, Gene Tze-chin</au><au>Tse, Wing-yee</au><au>Shek, Chi-chung</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia</atitle><jtitle>Clinica chimica acta</jtitle><addtitle>Clin Chim Acta</addtitle><date>2006-06-01</date><risdate>2006</risdate><volume>368</volume><issue>1</issue><spage>120</spage><epage>124</epage><pages>120-124</pages><issn>0009-8981</issn><eissn>1873-3492</eissn><abstract>Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the
LPL gene.
A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia. Mutation in her
LPL gene was screened by using polymerase chain reaction and direct DNA sequencing.
Homozygous missense mutations (L252V) were detected in the
LPL gene of the patient. A novel nonsense mutation (C27X) was also identified.
Our finding supports L252V mutation in the
LPL gene is a common mutation in Chinese with familial hyperchylomicronemia syndrome. DNA-based diagnosis in this syndrome is definitive. It saves the need for heparin-infusion test, which carries the risk of hemorrhage, and the measurement of LPL activity, which is tedious and is not widely available.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>16460718</pmid><doi>10.1016/j.cca.2005.12.020</doi><tpages>5</tpages></addata></record> |
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| ispartof | Clinica chimica acta, 2006-06, Vol.368 (1), p.120-124 |
| issn | 0009-8981 1873-3492 |
| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Asian Continental Ancestry Group Base Sequence Codon, Nonsense - genetics Cysteine - genetics Female Genotype Humans Hyperchylomicronemia Hypertriglyceridemia Hypertriglyceridemia - congenital Hypertriglyceridemia - genetics Infant, Newborn Leucine - genetics Lipid Metabolism Lipoprotein Lipase - genetics Lipoprotein lipase deficiency LPL gene Male Mutation Pedigree |
| title | A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia |
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