Novel CFTR mutations in black cystic fibrosis patients
Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected pa...
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| Veröffentlicht in: | Clinical genetics 2004-04, Vol.65 (4), p.284-287 |
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| container_title | Clinical genetics |
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| creator | Feuillet-Fieux, MN Ferrec, M Gigarel, N Thuillier, L Sermet, I Steffann, J Lenoir, G Bonnefont, JP |
| description | Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central Africa. We report here four novel mutations, i.e., IVS2 + 28 (intron 2), 459T > A (exon 4), EX17a_EX18del (exons 17–18), and IVS22 + IG > A (intron 22), in such patients. An update of CFTR mutations reported in black patients from various ethnies is included. These data might be helpful for genetic counselling regarding CF in black patients. |
| doi_str_mv | 10.1111/j.1399-0004.2004.00230.x |
| format | Article |
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In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central Africa. We report here four novel mutations, i.e., IVS2 + 28 (intron 2), 459T > A (exon 4), EX17a_EX18del (exons 17–18), and IVS22 + IG > A (intron 22), in such patients. An update of CFTR mutations reported in black patients from various ethnies is included. These data might be helpful for genetic counselling regarding CF in black patients.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2004.00230.x</identifier><identifier>PMID: 15025720</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK; Malden, USA: Munksgaard International Publishers</publisher><subject>African Continental Ancestry Group - genetics ; Biological and medical sciences ; black populations ; CFTR ; Child, Preschool ; Codon, Nonsense ; cystic fibrosis ; Cystic Fibrosis - ethnology ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; DNA Mutational Analysis ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Male ; Medical sciences ; Mutation ; Other diseases. Semiology ; Point Mutation ; RNA Splice Sites - genetics ; Sequence Deletion</subject><ispartof>Clinical genetics, 2004-04, Vol.65 (4), p.284-287</ispartof><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4320-9c4d26c076511092c73090bc9410c429221aab1a55ac64df42a89c9a9fe2ffbf3</citedby><cites>FETCH-LOGICAL-c4320-9c4d26c076511092c73090bc9410c429221aab1a55ac64df42a89c9a9fe2ffbf3</cites></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.1399-0004.2004.00230.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.2004.00230.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27922,27923,45572,45573</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15594919$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15025720$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Feuillet-Fieux, MN</creatorcontrib><creatorcontrib>Ferrec, M</creatorcontrib><creatorcontrib>Gigarel, N</creatorcontrib><creatorcontrib>Thuillier, L</creatorcontrib><creatorcontrib>Sermet, I</creatorcontrib><creatorcontrib>Steffann, J</creatorcontrib><creatorcontrib>Lenoir, G</creatorcontrib><creatorcontrib>Bonnefont, JP</creatorcontrib><title>Novel CFTR mutations in black cystic fibrosis patients</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central Africa. We report here four novel mutations, i.e., IVS2 + 28 (intron 2), 459T > A (exon 4), EX17a_EX18del (exons 17–18), and IVS22 + IG > A (intron 22), in such patients. An update of CFTR mutations reported in black patients from various ethnies is included. These data might be helpful for genetic counselling regarding CF in black patients.</description><subject>African Continental Ancestry Group - genetics</subject><subject>Biological and medical sciences</subject><subject>black populations</subject><subject>CFTR</subject><subject>Child, Preschool</subject><subject>Codon, Nonsense</subject><subject>cystic fibrosis</subject><subject>Cystic Fibrosis - ethnology</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Other diseases. Semiology</subject><subject>Point Mutation</subject><subject>RNA Splice Sites - genetics</subject><subject>Sequence Deletion</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkUFPwyAYhonRuDn9C6YXvXV-QFtG4sU0WzVZZqIzGi-EMkjYunaWTrd_L3XL9CgHPgjPC18eEAow9LEfN_M-ppyHABD1STsBEAr9zRHqHg6OUdcXHnKc0A46c27ut5TF_BR1cAwkZgS6KJlUn7oI0tH0KViuG9nYqnSBLYO8kGoRqK1rrAqMzevKWResPKDLxp2jEyMLpy_2tYdeRsNpeh-OH7OH9G4cqogSCLmKZiRRwJIYY-BEMQoccsUjDCoinBAsZY5lHEuVRDMTETngiktuNDEmN7SHrnf3rurqY61dI5bWKV0UstTV2gmGGWOUMg8OdqDyjbpaG7Gq7VLWW4FBtM7EXLRqRKtGtM7EjzOx8dHL_RvrfKlnv8G9JA9c7QHplCxMLUtl3R8u5hHH3HO3O-7LFnr77wZEmg39wsfDXdy6Rm8OcVkvRML8x4nXSSbe0iyB5P1ZMPoNNaiUWQ</recordid><startdate>200404</startdate><enddate>200404</enddate><creator>Feuillet-Fieux, MN</creator><creator>Ferrec, M</creator><creator>Gigarel, N</creator><creator>Thuillier, L</creator><creator>Sermet, I</creator><creator>Steffann, J</creator><creator>Lenoir, G</creator><creator>Bonnefont, JP</creator><general>Munksgaard International Publishers</general><general>Blackwell</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>200404</creationdate><title>Novel CFTR mutations in black cystic fibrosis patients</title><author>Feuillet-Fieux, MN ; Ferrec, M ; Gigarel, N ; Thuillier, L ; Sermet, I ; Steffann, J ; Lenoir, G ; Bonnefont, JP</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4320-9c4d26c076511092c73090bc9410c429221aab1a55ac64df42a89c9a9fe2ffbf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>African Continental Ancestry Group - genetics</topic><topic>Biological and medical sciences</topic><topic>black populations</topic><topic>CFTR</topic><topic>Child, Preschool</topic><topic>Codon, Nonsense</topic><topic>cystic fibrosis</topic><topic>Cystic Fibrosis - ethnology</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Other diseases. Semiology</topic><topic>Point Mutation</topic><topic>RNA Splice Sites - genetics</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Feuillet-Fieux, MN</creatorcontrib><creatorcontrib>Ferrec, M</creatorcontrib><creatorcontrib>Gigarel, N</creatorcontrib><creatorcontrib>Thuillier, L</creatorcontrib><creatorcontrib>Sermet, I</creatorcontrib><creatorcontrib>Steffann, J</creatorcontrib><creatorcontrib>Lenoir, G</creatorcontrib><creatorcontrib>Bonnefont, JP</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>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Feuillet-Fieux, MN</au><au>Ferrec, M</au><au>Gigarel, N</au><au>Thuillier, L</au><au>Sermet, I</au><au>Steffann, J</au><au>Lenoir, G</au><au>Bonnefont, JP</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel CFTR mutations in black cystic fibrosis patients</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2004-04</date><risdate>2004</risdate><volume>65</volume><issue>4</issue><spage>284</spage><epage>287</epage><pages>284-287</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central Africa. We report here four novel mutations, i.e., IVS2 + 28 (intron 2), 459T > A (exon 4), EX17a_EX18del (exons 17–18), and IVS22 + IG > A (intron 22), in such patients. An update of CFTR mutations reported in black patients from various ethnies is included. These data might be helpful for genetic counselling regarding CF in black patients.</abstract><cop>Oxford, UK; Malden, USA</cop><pub>Munksgaard International Publishers</pub><pmid>15025720</pmid><doi>10.1111/j.1399-0004.2004.00230.x</doi><tpages>4</tpages></addata></record> |
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| subjects | African Continental Ancestry Group - genetics Biological and medical sciences black populations CFTR Child, Preschool Codon, Nonsense cystic fibrosis Cystic Fibrosis - ethnology Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics DNA Mutational Analysis Female Gastroenterology. Liver. Pancreas. Abdomen Homozygote Humans Infant Infant, Newborn Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Mutation Other diseases. Semiology Point Mutation RNA Splice Sites - genetics Sequence Deletion |
| title | Novel CFTR mutations in black cystic fibrosis patients |
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