First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene. Direct genetic sequencing of CYP21A2 gene was performed. Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281...
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| Veröffentlicht in: | Clinical biochemistry 2007-12, Vol.40 (18), p.1435-1436 |
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| container_issue | 18 |
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| container_title | Clinical biochemistry |
| container_volume | 40 |
| creator | Concolino, Paola Corsello, Salvatore Carrozza, Cinzia Minucci, Angelo Santonocito, Concetta Lovicu, Rosa Maria Santini, Stefano Angelo Ameglio, Franco Zuppi, Cecilia Capoluongo, Ettore |
| description | To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.
Direct genetic sequencing of CYP21A2 gene was performed.
Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively.
V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency. |
| doi_str_mv | 10.1016/j.clinbiochem.2007.09.002 |
| format | Article |
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Direct genetic sequencing of CYP21A2 gene was performed.
Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively.
V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency.</description><identifier>ISSN: 0009-9120</identifier><identifier>EISSN: 1873-2933</identifier><identifier>DOI: 10.1016/j.clinbiochem.2007.09.002</identifier><identifier>PMID: 18028896</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adrenal Hyperplasia, Congenital - genetics ; Adult ; CYP21A2 ; Female ; Genotype ; Humans ; I172N ; Isoleucine - genetics ; Italy ; Male ; Polymorphism, Genetic ; Siblings ; Steroid 21-Hydroxylase - genetics ; V281L ; Valine - genetics</subject><ispartof>Clinical biochemistry, 2007-12, Vol.40 (18), p.1435-1436</ispartof><rights>2007 The Canadian Society of Clinical Chemists</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c350t-b5ba7ab39645cdf32733af6b3778e73aabc09dade31401c506ca4d40aae61fb93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0009912007003566$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18028896$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Concolino, Paola</creatorcontrib><creatorcontrib>Corsello, Salvatore</creatorcontrib><creatorcontrib>Carrozza, Cinzia</creatorcontrib><creatorcontrib>Minucci, Angelo</creatorcontrib><creatorcontrib>Santonocito, Concetta</creatorcontrib><creatorcontrib>Lovicu, Rosa Maria</creatorcontrib><creatorcontrib>Santini, Stefano Angelo</creatorcontrib><creatorcontrib>Ameglio, Franco</creatorcontrib><creatorcontrib>Zuppi, Cecilia</creatorcontrib><creatorcontrib>Capoluongo, Ettore</creatorcontrib><title>First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy</title><title>Clinical biochemistry</title><addtitle>Clin Biochem</addtitle><description>To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.
Direct genetic sequencing of CYP21A2 gene was performed.
Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively.
V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency.</description><subject>Adrenal Hyperplasia, Congenital - genetics</subject><subject>Adult</subject><subject>CYP21A2</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>I172N</subject><subject>Isoleucine - genetics</subject><subject>Italy</subject><subject>Male</subject><subject>Polymorphism, Genetic</subject><subject>Siblings</subject><subject>Steroid 21-Hydroxylase - genetics</subject><subject>V281L</subject><subject>Valine - genetics</subject><issn>0009-9120</issn><issn>1873-2933</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU2r1DAUhoMo3vHqX5C4cSPtPUnatFkOg1cHBhX8AFchTU-dDG1Tk4wya_-4GWZAd7o6CXne80IeQl4wKBkweXco7ejmznm7x6nkAE0JqgTgD8iKtY0ouBLiIVkBgCoU43BDnsR4yFdetfIxuWEt8LZVckV-3bsQE7UmIvUD_cJb9mrLGv7u7nzc0c3XD5ytOf2Gs0-nBamJ0VtnEvb0p0t7av2c31wyIzV9wDnPfebCMproDB18mEq6vhQEXHxIdAh-oh_9Mae3OXd6Sh4NZoz47Dpvyef71582b4vd-zfbzXpXWFFDKrq6M43phJJVbftB8EYIM8hONE2LjTCms6B606NgFTBbg7Sm6iswBiUbOiVuycvL3iX470eMSU8uWhxHM6M_Ri3bWkItq3-CHOoKuDpvVBfQBh9jwEEvwU0mnDQDfValD_ovVfqsSoPSWUTOPr-WHLsJ-z_Jq5sMbC4A5j_54TDoaB3OFnsX0Cbde_cfNb8BH7-qWQ</recordid><startdate>20071201</startdate><enddate>20071201</enddate><creator>Concolino, Paola</creator><creator>Corsello, Salvatore</creator><creator>Carrozza, Cinzia</creator><creator>Minucci, Angelo</creator><creator>Santonocito, Concetta</creator><creator>Lovicu, Rosa Maria</creator><creator>Santini, Stefano Angelo</creator><creator>Ameglio, Franco</creator><creator>Zuppi, Cecilia</creator><creator>Capoluongo, Ettore</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>7X8</scope></search><sort><creationdate>20071201</creationdate><title>First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy</title><author>Concolino, Paola ; Corsello, Salvatore ; Carrozza, Cinzia ; Minucci, Angelo ; Santonocito, Concetta ; Lovicu, Rosa Maria ; Santini, Stefano Angelo ; Ameglio, Franco ; Zuppi, Cecilia ; Capoluongo, Ettore</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c350t-b5ba7ab39645cdf32733af6b3778e73aabc09dade31401c506ca4d40aae61fb93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adrenal Hyperplasia, Congenital - genetics</topic><topic>Adult</topic><topic>CYP21A2</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>I172N</topic><topic>Isoleucine - genetics</topic><topic>Italy</topic><topic>Male</topic><topic>Polymorphism, Genetic</topic><topic>Siblings</topic><topic>Steroid 21-Hydroxylase - genetics</topic><topic>V281L</topic><topic>Valine - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Concolino, Paola</creatorcontrib><creatorcontrib>Corsello, Salvatore</creatorcontrib><creatorcontrib>Carrozza, Cinzia</creatorcontrib><creatorcontrib>Minucci, Angelo</creatorcontrib><creatorcontrib>Santonocito, Concetta</creatorcontrib><creatorcontrib>Lovicu, Rosa Maria</creatorcontrib><creatorcontrib>Santini, Stefano Angelo</creatorcontrib><creatorcontrib>Ameglio, Franco</creatorcontrib><creatorcontrib>Zuppi, Cecilia</creatorcontrib><creatorcontrib>Capoluongo, Ettore</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>MEDLINE - Academic</collection><jtitle>Clinical biochemistry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Concolino, Paola</au><au>Corsello, Salvatore</au><au>Carrozza, Cinzia</au><au>Minucci, Angelo</au><au>Santonocito, Concetta</au><au>Lovicu, Rosa Maria</au><au>Santini, Stefano Angelo</au><au>Ameglio, Franco</au><au>Zuppi, Cecilia</au><au>Capoluongo, Ettore</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy</atitle><jtitle>Clinical biochemistry</jtitle><addtitle>Clin Biochem</addtitle><date>2007-12-01</date><risdate>2007</risdate><volume>40</volume><issue>18</issue><spage>1435</spage><epage>1436</epage><pages>1435-1436</pages><issn>0009-9120</issn><eissn>1873-2933</eissn><abstract>To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.
Direct genetic sequencing of CYP21A2 gene was performed.
Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively.
V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>18028896</pmid><doi>10.1016/j.clinbiochem.2007.09.002</doi><tpages>2</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0009-9120 |
| ispartof | Clinical biochemistry, 2007-12, Vol.40 (18), p.1435-1436 |
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| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adrenal Hyperplasia, Congenital - genetics Adult CYP21A2 Female Genotype Humans I172N Isoleucine - genetics Italy Male Polymorphism, Genetic Siblings Steroid 21-Hydroxylase - genetics V281L Valine - genetics |
| title | First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy |
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