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Molecular characterization of CPS1 deletions by array CGH
CPSI deficiency usually results in severe hyperammonemia presenting in the first days of life warranting prompt diagnosis. Most CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study, we report the detection of large deletions varyi...
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| Published in: | Molecular genetics and metabolism 2011-01, Vol.102 (1), p.103-106 |
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| Main Authors: | , , , , , , , , , |
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| cites | cdi_FETCH-LOGICAL-c490t-449ad9ee0c22913fd2aa1ca1a991b8df2fc4b2639bb01c10c17c79a0ed123b8c3 |
| container_end_page | 106 |
| container_issue | 1 |
| container_start_page | 103 |
| container_title | Molecular genetics and metabolism |
| container_volume | 102 |
| creator | Wang, Jing Shchelochkov, Oleg A. Zhan, Hongli Li, Fangyuan Chen, Li-Chieh Brundage, Ellen K. Pursley, Amber N. Schmitt, Eric S. Häberle, Johannes Wong, Lee-Jun C. |
| description | CPSI deficiency usually results in severe hyperammonemia presenting in the first days of life warranting prompt diagnosis. Most
CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study, we report the detection of large deletions varying from 1.4
kb to >
130
kb in the
CPS1 gene of 4 unrelated patients by targeted array CGH. These results underscore the importance of analysis of large deletions when only one mutation or no mutations are identified in cases where CPSI deficiency is strongly indicated. |
| doi_str_mv | 10.1016/j.ymgme.2010.08.020 |
| format | article |
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CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study, we report the detection of large deletions varying from 1.4
kb to >
130
kb in the
CPS1 gene of 4 unrelated patients by targeted array CGH. These results underscore the importance of analysis of large deletions when only one mutation or no mutations are identified in cases where CPSI deficiency is strongly indicated.</description><identifier>ISSN: 1096-7192</identifier><identifier>EISSN: 1096-7206</identifier><identifier>DOI: 10.1016/j.ymgme.2010.08.020</identifier><identifier>PMID: 20855223</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Array CGH ; Base Sequence ; Carbamoyl-Phosphate Synthase (Ammonia) - genetics ; Carbamoyl-Phosphate Synthase I Deficiency Disease - diagnosis ; Carbamoyl-Phosphate Synthase I Deficiency Disease - genetics ; Child, Preschool ; CPSI deficiency ; Fatal Outcome ; Female ; Gene Deletion ; Heterozygote ; Humans ; Infant, Newborn ; Large deletion ; Male ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide</subject><ispartof>Molecular genetics and metabolism, 2011-01, Vol.102 (1), p.103-106</ispartof><rights>2010</rights><rights>Published by Elsevier Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c490t-449ad9ee0c22913fd2aa1ca1a991b8df2fc4b2639bb01c10c17c79a0ed123b8c3</citedby><cites>FETCH-LOGICAL-c490t-449ad9ee0c22913fd2aa1ca1a991b8df2fc4b2639bb01c10c17c79a0ed123b8c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20855223$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wang, Jing</creatorcontrib><creatorcontrib>Shchelochkov, Oleg A.</creatorcontrib><creatorcontrib>Zhan, Hongli</creatorcontrib><creatorcontrib>Li, Fangyuan</creatorcontrib><creatorcontrib>Chen, Li-Chieh</creatorcontrib><creatorcontrib>Brundage, Ellen K.</creatorcontrib><creatorcontrib>Pursley, Amber N.</creatorcontrib><creatorcontrib>Schmitt, Eric S.</creatorcontrib><creatorcontrib>Häberle, Johannes</creatorcontrib><creatorcontrib>Wong, Lee-Jun C.</creatorcontrib><title>Molecular characterization of CPS1 deletions by array CGH</title><title>Molecular genetics and metabolism</title><addtitle>Mol Genet Metab</addtitle><description>CPSI deficiency usually results in severe hyperammonemia presenting in the first days of life warranting prompt diagnosis. Most
CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study, we report the detection of large deletions varying from 1.4
kb to >
130
kb in the
CPS1 gene of 4 unrelated patients by targeted array CGH. These results underscore the importance of analysis of large deletions when only one mutation or no mutations are identified in cases where CPSI deficiency is strongly indicated.</description><subject>Array CGH</subject><subject>Base Sequence</subject><subject>Carbamoyl-Phosphate Synthase (Ammonia) - genetics</subject><subject>Carbamoyl-Phosphate Synthase I Deficiency Disease - diagnosis</subject><subject>Carbamoyl-Phosphate Synthase I Deficiency Disease - genetics</subject><subject>Child, Preschool</subject><subject>CPSI deficiency</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Large deletion</subject><subject>Male</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Polymorphism, Single Nucleotide</subject><issn>1096-7192</issn><issn>1096-7206</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><recordid>eNp9kE9PG0EMxUeoCCj0E1Sq9tZTgj37JzuHVqoiSiqBQIKeR16vFyba3aEzm0jh07NpCGovnGzZz-9ZP6U-I0wRsDhfTjfdQydTDeMEyiloOFAnCKaYzDQUH_Y9Gn2sPsa4BEDMTXakjjWUea51eqLMtW-FVy2FhB8pEA8S3DMNzveJb5L57R0mtbSyHcSk2iQUAm2S-eXiTB021Eb59FpP1e-fF_fzxeTq5vLX_MfVhDMDwyTLDNVGBFhrg2lTayJkQjIGq7JudMNZpYvUVBUgIzDOeGYIpEadViWnp-r7zvdpVXVSs_RDoNY-BddR2FhPzv6_6d2jffBrm5WFMUU-Gnx9NQj-z0riYDsXWdqWevGraE2eFQAG0lGZ7pQcfIxBmrcUBLtlbpf2L3O7ZW6htCPz8erLvw--3ewhj4JvO4GMmNZOgo3spGepXRAebO3duwEvxLKUVg</recordid><startdate>20110101</startdate><enddate>20110101</enddate><creator>Wang, Jing</creator><creator>Shchelochkov, Oleg A.</creator><creator>Zhan, Hongli</creator><creator>Li, Fangyuan</creator><creator>Chen, Li-Chieh</creator><creator>Brundage, Ellen K.</creator><creator>Pursley, Amber N.</creator><creator>Schmitt, Eric S.</creator><creator>Häberle, Johannes</creator><creator>Wong, Lee-Jun C.</creator><general>Elsevier Inc</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>20110101</creationdate><title>Molecular characterization of CPS1 deletions by array CGH</title><author>Wang, Jing ; Shchelochkov, Oleg A. ; Zhan, Hongli ; Li, Fangyuan ; Chen, Li-Chieh ; Brundage, Ellen K. ; Pursley, Amber N. ; Schmitt, Eric S. ; Häberle, Johannes ; Wong, Lee-Jun C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c490t-449ad9ee0c22913fd2aa1ca1a991b8df2fc4b2639bb01c10c17c79a0ed123b8c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Array CGH</topic><topic>Base Sequence</topic><topic>Carbamoyl-Phosphate Synthase (Ammonia) - genetics</topic><topic>Carbamoyl-Phosphate Synthase I Deficiency Disease - diagnosis</topic><topic>Carbamoyl-Phosphate Synthase I Deficiency Disease - genetics</topic><topic>Child, Preschool</topic><topic>CPSI deficiency</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Large deletion</topic><topic>Male</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Polymorphism, Single Nucleotide</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wang, Jing</creatorcontrib><creatorcontrib>Shchelochkov, Oleg A.</creatorcontrib><creatorcontrib>Zhan, Hongli</creatorcontrib><creatorcontrib>Li, Fangyuan</creatorcontrib><creatorcontrib>Chen, Li-Chieh</creatorcontrib><creatorcontrib>Brundage, Ellen K.</creatorcontrib><creatorcontrib>Pursley, Amber N.</creatorcontrib><creatorcontrib>Schmitt, Eric S.</creatorcontrib><creatorcontrib>Häberle, Johannes</creatorcontrib><creatorcontrib>Wong, Lee-Jun C.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Molecular genetics and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wang, Jing</au><au>Shchelochkov, Oleg A.</au><au>Zhan, Hongli</au><au>Li, Fangyuan</au><au>Chen, Li-Chieh</au><au>Brundage, Ellen K.</au><au>Pursley, Amber N.</au><au>Schmitt, Eric S.</au><au>Häberle, Johannes</au><au>Wong, Lee-Jun C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular characterization of CPS1 deletions by array CGH</atitle><jtitle>Molecular genetics and metabolism</jtitle><addtitle>Mol Genet Metab</addtitle><date>2011-01-01</date><risdate>2011</risdate><volume>102</volume><issue>1</issue><spage>103</spage><epage>106</epage><pages>103-106</pages><issn>1096-7192</issn><eissn>1096-7206</eissn><abstract>CPSI deficiency usually results in severe hyperammonemia presenting in the first days of life warranting prompt diagnosis. Most
CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study, we report the detection of large deletions varying from 1.4
kb to >
130
kb in the
CPS1 gene of 4 unrelated patients by targeted array CGH. These results underscore the importance of analysis of large deletions when only one mutation or no mutations are identified in cases where CPSI deficiency is strongly indicated.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>20855223</pmid><doi>10.1016/j.ymgme.2010.08.020</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Molecular genetics and metabolism, 2011-01, Vol.102 (1), p.103-106 |
| issn | 1096-7192 1096-7206 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4869965 |
| source | Elsevier |
| subjects | Array CGH Base Sequence Carbamoyl-Phosphate Synthase (Ammonia) - genetics Carbamoyl-Phosphate Synthase I Deficiency Disease - diagnosis Carbamoyl-Phosphate Synthase I Deficiency Disease - genetics Child, Preschool CPSI deficiency Fatal Outcome Female Gene Deletion Heterozygote Humans Infant, Newborn Large deletion Male Oligonucleotide Array Sequence Analysis Polymorphism, Single Nucleotide |
| title | Molecular characterization of CPS1 deletions by array CGH |
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