Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets
Summary Background X‐linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to m...
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| Veröffentlicht in: | Clinical endocrinology (Oxford) 2011-03, Vol.74 (3), p.312-318 |
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| creator | Ruppe, Mary D. Brosnan, Patrick G. Au, Kit Sing Tran, Phong X. Dominguez, Barbara W. Northrup, Hope |
| description | Summary
Background X‐linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.
Objective The objective of the study was to evaluate the frequency of mutations that occur in these three genes associated with hypophosphatemic rickets.
Patients and Methods In this study, we sequenced these genes in 76 members of 46 kindreds from a large hypophosphatemic rickets cohort.
Results Forty‐two individuals from 27 kindreds were found to have mutations in PHEX; 16 of which were novel. One subject had an FGF23 mutation. No individuals were found to have mutations in DMP1 consistent with the presence of recessive hypophosphatemic rickets.
Conclusions Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets. |
| doi_str_mv | 10.1111/j.1365-2265.2010.03919.x |
| format | Article |
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Background X‐linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.
Objective The objective of the study was to evaluate the frequency of mutations that occur in these three genes associated with hypophosphatemic rickets.
Patients and Methods In this study, we sequenced these genes in 76 members of 46 kindreds from a large hypophosphatemic rickets cohort.
Results Forty‐two individuals from 27 kindreds were found to have mutations in PHEX; 16 of which were novel. One subject had an FGF23 mutation. No individuals were found to have mutations in DMP1 consistent with the presence of recessive hypophosphatemic rickets.
Conclusions Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.</description><identifier>ISSN: 0300-0664</identifier><identifier>EISSN: 1365-2265</identifier><identifier>DOI: 10.1111/j.1365-2265.2010.03919.x</identifier><identifier>PMID: 21050253</identifier><identifier>CODEN: CLECAP</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Biochemical characteristics ; Biological and medical sciences ; Cohort Studies ; Data processing ; Dmp1 protein ; DNA Mutational Analysis ; Endocrinopathies ; Extracellular Matrix Proteins - genetics ; Familial Hypophosphatemic Rickets - diagnosis ; Familial Hypophosphatemic Rickets - genetics ; Family Health ; Female ; Fibroblast growth factor 23 ; Fibroblast Growth Factors - genetics ; Fundamental and applied biological sciences. Psychology ; Genetic Diseases, X-Linked ; Genetic diversity ; Genetic Testing ; Humans ; Hypophosphatemia ; Kidney ; Male ; Medical sciences ; Miscellaneous ; Mutation ; Mutation, Missense ; PHEX Phosphate Regulating Neutral Endopeptidase - genetics ; Phosphate ; Phosphoproteins - genetics ; Polymorphism, Single Nucleotide ; Public health. Hygiene ; Public health. Hygiene-occupational medicine ; Rickets ; Vertebrates: endocrinology ; X chromosome</subject><ispartof>Clinical endocrinology (Oxford), 2011-03, Vol.74 (3), p.312-318</ispartof><rights>2011 Blackwell Publishing Ltd</rights><rights>2015 INIST-CNRS</rights><rights>2011 Blackwell Publishing Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5529-ed92ef8fa3061ed5afdd7fcc79bc8d12b25793268d100a410b700471799defb13</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1365-2265.2010.03919.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2265.2010.03919.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,778,782,883,1414,27911,27912,45561,45562</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23866342$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21050253$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ruppe, Mary D.</creatorcontrib><creatorcontrib>Brosnan, Patrick G.</creatorcontrib><creatorcontrib>Au, Kit Sing</creatorcontrib><creatorcontrib>Tran, Phong X.</creatorcontrib><creatorcontrib>Dominguez, Barbara W.</creatorcontrib><creatorcontrib>Northrup, Hope</creatorcontrib><title>Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets</title><title>Clinical endocrinology (Oxford)</title><addtitle>Clin Endocrinol (Oxf)</addtitle><description>Summary
Background X‐linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.
Objective The objective of the study was to evaluate the frequency of mutations that occur in these three genes associated with hypophosphatemic rickets.
Patients and Methods In this study, we sequenced these genes in 76 members of 46 kindreds from a large hypophosphatemic rickets cohort.
Results Forty‐two individuals from 27 kindreds were found to have mutations in PHEX; 16 of which were novel. One subject had an FGF23 mutation. No individuals were found to have mutations in DMP1 consistent with the presence of recessive hypophosphatemic rickets.
Conclusions Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.</description><subject>Biochemical characteristics</subject><subject>Biological and medical sciences</subject><subject>Cohort Studies</subject><subject>Data processing</subject><subject>Dmp1 protein</subject><subject>DNA Mutational Analysis</subject><subject>Endocrinopathies</subject><subject>Extracellular Matrix Proteins - genetics</subject><subject>Familial Hypophosphatemic Rickets - diagnosis</subject><subject>Familial Hypophosphatemic Rickets - genetics</subject><subject>Family Health</subject><subject>Female</subject><subject>Fibroblast growth factor 23</subject><subject>Fibroblast Growth Factors - genetics</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic Diseases, X-Linked</subject><subject>Genetic diversity</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Hypophosphatemia</subject><subject>Kidney</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Miscellaneous</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>PHEX Phosphate Regulating Neutral Endopeptidase - genetics</subject><subject>Phosphate</subject><subject>Phosphoproteins - genetics</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Public health. Hygiene</subject><subject>Public health. Hygiene-occupational medicine</subject><subject>Rickets</subject><subject>Vertebrates: endocrinology</subject><subject>X chromosome</subject><issn>0300-0664</issn><issn>1365-2265</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkk2P0zAQhiMEYsvCX0CWEOJCytiO7fgAEuq2XaTusodFcLMcxyHupnGIU7b99zi0lI8LPtijmecdje03SRCGKY7rzXqKKWcpIZxNCcQsUInldPcgmZwKD5MJUIAUOM_OkichrAGA5SAeJ2cEAwPC6CTRV9tBD863ukE6bvvgAvIVurmcf3mNFssFoTFfoourG4xcizQyvvb9MDJdFNp2COjeDTWq953vah-6Wg924wzqnbmzQ3iaPKp0E-yz43mefFrMb2eX6erj8sPs_So1jBGZ2lISW-WVpsCxLZmuylJUxghZmLzEpCBMSEp4jAF0hqEQAJnAQsrSVgWm58m7Q99uW2xsaeJkvW5U17uN7vfKa6f-rrSuVl_9d0WBMsFEbPDq2KD337Y2DGrjgrFNo1vrt0FJyDIuM07-S-YMGM9IlkXyxT_k2m_7-M5B4XhrxmmO80g9_3P008y_vikCL4-ADkY3Va9b48Jvjuac02wc7O2Bu3eN3Z_qGNRoG7VWozvU6A412kb9tI3aqdn8eoyiPj3oXRjs7qTX_Z3iggqmPl8v1eKCytuVoGpJfwD5IsMX</recordid><startdate>201103</startdate><enddate>201103</enddate><creator>Ruppe, Mary D.</creator><creator>Brosnan, Patrick G.</creator><creator>Au, Kit Sing</creator><creator>Tran, Phong X.</creator><creator>Dominguez, Barbara W.</creator><creator>Northrup, Hope</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><general>Wiley Subscription Services, Inc</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>7QP</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><scope>7U7</scope><scope>C1K</scope><scope>5PM</scope></search><sort><creationdate>201103</creationdate><title>Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets</title><author>Ruppe, Mary D. ; Brosnan, Patrick G. ; Au, Kit Sing ; Tran, Phong X. ; Dominguez, Barbara W. ; Northrup, Hope</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5529-ed92ef8fa3061ed5afdd7fcc79bc8d12b25793268d100a410b700471799defb13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Biochemical characteristics</topic><topic>Biological and medical sciences</topic><topic>Cohort Studies</topic><topic>Data processing</topic><topic>Dmp1 protein</topic><topic>DNA Mutational Analysis</topic><topic>Endocrinopathies</topic><topic>Extracellular Matrix Proteins - genetics</topic><topic>Familial Hypophosphatemic Rickets - diagnosis</topic><topic>Familial Hypophosphatemic Rickets - genetics</topic><topic>Family Health</topic><topic>Female</topic><topic>Fibroblast growth factor 23</topic><topic>Fibroblast Growth Factors - genetics</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic Diseases, X-Linked</topic><topic>Genetic diversity</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Hypophosphatemia</topic><topic>Kidney</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Miscellaneous</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>PHEX Phosphate Regulating Neutral Endopeptidase - genetics</topic><topic>Phosphate</topic><topic>Phosphoproteins - genetics</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Public health. Hygiene</topic><topic>Public health. Hygiene-occupational medicine</topic><topic>Rickets</topic><topic>Vertebrates: endocrinology</topic><topic>X chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ruppe, Mary D.</creatorcontrib><creatorcontrib>Brosnan, Patrick G.</creatorcontrib><creatorcontrib>Au, Kit Sing</creatorcontrib><creatorcontrib>Tran, Phong X.</creatorcontrib><creatorcontrib>Dominguez, Barbara W.</creatorcontrib><creatorcontrib>Northrup, Hope</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>Calcium & Calcified Tissue Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><collection>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Clinical endocrinology (Oxford)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ruppe, Mary D.</au><au>Brosnan, Patrick G.</au><au>Au, Kit Sing</au><au>Tran, Phong X.</au><au>Dominguez, Barbara W.</au><au>Northrup, Hope</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets</atitle><jtitle>Clinical endocrinology (Oxford)</jtitle><addtitle>Clin Endocrinol (Oxf)</addtitle><date>2011-03</date><risdate>2011</risdate><volume>74</volume><issue>3</issue><spage>312</spage><epage>318</epage><pages>312-318</pages><issn>0300-0664</issn><eissn>1365-2265</eissn><coden>CLECAP</coden><abstract>Summary
Background X‐linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.
Objective The objective of the study was to evaluate the frequency of mutations that occur in these three genes associated with hypophosphatemic rickets.
Patients and Methods In this study, we sequenced these genes in 76 members of 46 kindreds from a large hypophosphatemic rickets cohort.
Results Forty‐two individuals from 27 kindreds were found to have mutations in PHEX; 16 of which were novel. One subject had an FGF23 mutation. No individuals were found to have mutations in DMP1 consistent with the presence of recessive hypophosphatemic rickets.
Conclusions Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>21050253</pmid><doi>10.1111/j.1365-2265.2010.03919.x</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Biochemical characteristics Biological and medical sciences Cohort Studies Data processing Dmp1 protein DNA Mutational Analysis Endocrinopathies Extracellular Matrix Proteins - genetics Familial Hypophosphatemic Rickets - diagnosis Familial Hypophosphatemic Rickets - genetics Family Health Female Fibroblast growth factor 23 Fibroblast Growth Factors - genetics Fundamental and applied biological sciences. Psychology Genetic Diseases, X-Linked Genetic diversity Genetic Testing Humans Hypophosphatemia Kidney Male Medical sciences Miscellaneous Mutation Mutation, Missense PHEX Phosphate Regulating Neutral Endopeptidase - genetics Phosphate Phosphoproteins - genetics Polymorphism, Single Nucleotide Public health. Hygiene Public health. Hygiene-occupational medicine Rickets Vertebrates: endocrinology X chromosome |
| title | Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets |
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