Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients
We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P< 0.01), as compared to the ΔF508/ΔF508 group. Poor values for lung...
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| Veröffentlicht in: | Human mutation 1997, Vol.10 (5), p.387-392 |
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| creator | Casals, T Pacheco, P Barreto, C Giménez, J Ramos, MD Pereira, S Pinheiro, JA Cobos, N Curvelo, A Vázquez, C Rocha, H Séculi, JL Pérez, E Dapena, J Carrilho, E Duarte, A Palacio, AM Nunes, V Lavinha, J Estivill, X |
| description | We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P< 0.01), as compared to the ΔF508/ΔF508 group. Poor values for lung radiological involvement (Chrispin‐Norman) and general status (Shwachman‐Kulcycki) were observed in the R1066C/any mutation group (P < 0.005 and P < 0.0004). A slightly, but not significantly worse lung function was found in the R1066C/any mutation group when compared with the ΔF508/ΔF508 patients. No significant differences were detected regarding the age at diagnosis, sweat Cl‐values, or percentiles of height and weight between the two groups. Neither were significant differences observed regarding sex, meconium ileus (4.7% vs. 11.1%), dehydration (10.5% vs. 14.7%), or pancreatic insufficiency (PI) (100% vs. 97.8%). The proportion of patients with lung colonization by bacterial pathogens was slightly, but not significantly higher in the R1066C/any mutation group (70.0%), as compared with the ΔF508/ΔF508 group (57.5%). Other clinical complications were significantly more frequent in the R1066C/any mutation patients(P < 0.02) than in the ΔF508/ΔF508 group. The two homozygous R1066C/R1066C patients died at the ages of 3 months and 7 years. The data presented in this study clearly demonstrate that the R1066C mutation is responsible for a severe phenotype similar to that observed in homozygous ΔF508 patients. The poor clinical scores and complications of patients with the R1066C mutation are probably related to their slightly longer survival. Hum Mutat 10:387–392, 1997. © 1997 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C |
| format | Article |
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The current age of the patients was higher in the R1066C/any mutation group (P< 0.01), as compared to the ΔF508/ΔF508 group. Poor values for lung radiological involvement (Chrispin‐Norman) and general status (Shwachman‐Kulcycki) were observed in the R1066C/any mutation group (P < 0.005 and P < 0.0004). A slightly, but not significantly worse lung function was found in the R1066C/any mutation group when compared with the ΔF508/ΔF508 patients. No significant differences were detected regarding the age at diagnosis, sweat Cl‐values, or percentiles of height and weight between the two groups. Neither were significant differences observed regarding sex, meconium ileus (4.7% vs. 11.1%), dehydration (10.5% vs. 14.7%), or pancreatic insufficiency (PI) (100% vs. 97.8%). The proportion of patients with lung colonization by bacterial pathogens was slightly, but not significantly higher in the R1066C/any mutation group (70.0%), as compared with the ΔF508/ΔF508 group (57.5%). Other clinical complications were significantly more frequent in the R1066C/any mutation patients(P < 0.02) than in the ΔF508/ΔF508 group. The two homozygous R1066C/R1066C patients died at the ages of 3 months and 7 years. The data presented in this study clearly demonstrate that the R1066C mutation is responsible for a severe phenotype similar to that observed in homozygous ΔF508 patients. The poor clinical scores and complications of patients with the R1066C mutation are probably related to their slightly longer survival. Hum Mutat 10:387–392, 1997. © 1997 Wiley‐Liss, Inc.</description><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C</identifier><identifier>PMID: 9375855</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Child ; Child, Preschool ; cystic fibrosis ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; DNA, Satellite ; Female ; genotype/phenotype correlation ; Heterozygote ; Homozygote ; Humans ; Infant ; Male ; Mutation ; Pedigree ; Phenotype ; R1066C mutation</subject><ispartof>Human mutation, 1997, Vol.10 (5), p.387-392</ispartof><rights>Copyright © 1997 Wiley‐Liss, Inc.</rights><rights>Copyright © 1997 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c5019-3a0d69ebeeb87671f88f99c28e7f6bca913bb0934402f181abd37b198ba8c6793</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C387%3A%3AAID-HUMU9%3E3.0.CO%3B2-C$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C387%3A%3AAID-HUMU9%3E3.0.CO%3B2-C$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,4010,27902,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9375855$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Casals, T</creatorcontrib><creatorcontrib>Pacheco, P</creatorcontrib><creatorcontrib>Barreto, C</creatorcontrib><creatorcontrib>Giménez, J</creatorcontrib><creatorcontrib>Ramos, MD</creatorcontrib><creatorcontrib>Pereira, S</creatorcontrib><creatorcontrib>Pinheiro, JA</creatorcontrib><creatorcontrib>Cobos, N</creatorcontrib><creatorcontrib>Curvelo, A</creatorcontrib><creatorcontrib>Vázquez, C</creatorcontrib><creatorcontrib>Rocha, H</creatorcontrib><creatorcontrib>Séculi, JL</creatorcontrib><creatorcontrib>Pérez, E</creatorcontrib><creatorcontrib>Dapena, J</creatorcontrib><creatorcontrib>Carrilho, E</creatorcontrib><creatorcontrib>Duarte, A</creatorcontrib><creatorcontrib>Palacio, AM</creatorcontrib><creatorcontrib>Nunes, V</creatorcontrib><creatorcontrib>Lavinha, J</creatorcontrib><creatorcontrib>Estivill, X</creatorcontrib><title>Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients</title><title>Human mutation</title><addtitle>Hum. Mutat</addtitle><description>We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P< 0.01), as compared to the ΔF508/ΔF508 group. Poor values for lung radiological involvement (Chrispin‐Norman) and general status (Shwachman‐Kulcycki) were observed in the R1066C/any mutation group (P < 0.005 and P < 0.0004). A slightly, but not significantly worse lung function was found in the R1066C/any mutation group when compared with the ΔF508/ΔF508 patients. No significant differences were detected regarding the age at diagnosis, sweat Cl‐values, or percentiles of height and weight between the two groups. Neither were significant differences observed regarding sex, meconium ileus (4.7% vs. 11.1%), dehydration (10.5% vs. 14.7%), or pancreatic insufficiency (PI) (100% vs. 97.8%). The proportion of patients with lung colonization by bacterial pathogens was slightly, but not significantly higher in the R1066C/any mutation group (70.0%), as compared with the ΔF508/ΔF508 group (57.5%). Other clinical complications were significantly more frequent in the R1066C/any mutation patients(P < 0.02) than in the ΔF508/ΔF508 group. The two homozygous R1066C/R1066C patients died at the ages of 3 months and 7 years. The data presented in this study clearly demonstrate that the R1066C mutation is responsible for a severe phenotype similar to that observed in homozygous ΔF508 patients. The poor clinical scores and complications of patients with the R1066C mutation are probably related to their slightly longer survival. Hum Mutat 10:387–392, 1997. © 1997 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>cystic fibrosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>DNA, Satellite</subject><subject>Female</subject><subject>genotype/phenotype correlation</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>R1066C mutation</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9UV1v0zAUjRBobIOfgGTxgMZDih0nsd0hpCmjXaWNSmsrEC9XdnJDszVJiRMg_Bv-KQ4tfQDE0_06Puf6Hs87Z3TEKA1enS1myewlo0r6rg7PmFLClePoNZdiPL6YXfpXq5uVesNHdJTMzwM_eeAdH_APhzxSvhAqfOydWHtHKZVRxI-8I8VF5NJj78dNYS1WFknZtbot6orcMhrHCSkq0q6RWEzrKiNtoytbYmlcRJLVpXbzOifJZHlLUt1ZtEQ78BdskKS9bYuU5IVpaltYsl1jVbf9Fsdk0XZZPzxkiqyxxab-3n-qO_fYiQRkXZe_G1u3DVatfeI9yvXG4tN9PPVWk7fL5Mq_nk9nycW1n0aUKZ9rmsUKDaKRIhYslzJXKg0kijw2qVaMG0MVD0Ma5EwybTIuDFPSaJnGQvFT78WOd9vUnzu0LZSFTXGzcR92-4C7YhAqyh3w-R_Au7prKrcbMCUCGSlOHWixA6XuBLbBHLZNUeqmB0ZhcBdgcBcGt4Y6hMHdYRiBcxfAuQu_3AUOFJI5BJA41md76c6UmB0493a6-XI3_1pssP9L8r-K_xLcNRytv6MtbIvfDrS6uYdYOGl4_24KUzqRH-g0hI_8J8Gl0Bo</recordid><startdate>1997</startdate><enddate>1997</enddate><creator>Casals, T</creator><creator>Pacheco, P</creator><creator>Barreto, C</creator><creator>Giménez, J</creator><creator>Ramos, MD</creator><creator>Pereira, S</creator><creator>Pinheiro, JA</creator><creator>Cobos, N</creator><creator>Curvelo, A</creator><creator>Vázquez, C</creator><creator>Rocha, H</creator><creator>Séculi, JL</creator><creator>Pérez, E</creator><creator>Dapena, J</creator><creator>Carrilho, E</creator><creator>Duarte, A</creator><creator>Palacio, AM</creator><creator>Nunes, V</creator><creator>Lavinha, J</creator><creator>Estivill, X</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Hindawi Limited</general><scope>BSCLL</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>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>1997</creationdate><title>Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients</title><author>Casals, T ; Pacheco, P ; Barreto, C ; Giménez, J ; Ramos, MD ; Pereira, S ; Pinheiro, JA ; Cobos, N ; Curvelo, A ; Vázquez, C ; Rocha, H ; Séculi, JL ; Pérez, E ; Dapena, J ; Carrilho, E ; Duarte, A ; Palacio, AM ; Nunes, V ; Lavinha, J ; Estivill, X</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5019-3a0d69ebeeb87671f88f99c28e7f6bca913bb0934402f181abd37b198ba8c6793</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adolescent</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>cystic fibrosis</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>DNA, Satellite</topic><topic>Female</topic><topic>genotype/phenotype correlation</topic><topic>Heterozygote</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>R1066C mutation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Casals, T</creatorcontrib><creatorcontrib>Pacheco, P</creatorcontrib><creatorcontrib>Barreto, C</creatorcontrib><creatorcontrib>Giménez, J</creatorcontrib><creatorcontrib>Ramos, MD</creatorcontrib><creatorcontrib>Pereira, S</creatorcontrib><creatorcontrib>Pinheiro, JA</creatorcontrib><creatorcontrib>Cobos, N</creatorcontrib><creatorcontrib>Curvelo, A</creatorcontrib><creatorcontrib>Vázquez, C</creatorcontrib><creatorcontrib>Rocha, H</creatorcontrib><creatorcontrib>Séculi, JL</creatorcontrib><creatorcontrib>Pérez, E</creatorcontrib><creatorcontrib>Dapena, J</creatorcontrib><creatorcontrib>Carrilho, E</creatorcontrib><creatorcontrib>Duarte, A</creatorcontrib><creatorcontrib>Palacio, AM</creatorcontrib><creatorcontrib>Nunes, V</creatorcontrib><creatorcontrib>Lavinha, J</creatorcontrib><creatorcontrib>Estivill, X</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Casals, T</au><au>Pacheco, P</au><au>Barreto, C</au><au>Giménez, J</au><au>Ramos, MD</au><au>Pereira, S</au><au>Pinheiro, JA</au><au>Cobos, N</au><au>Curvelo, A</au><au>Vázquez, C</au><au>Rocha, H</au><au>Séculi, JL</au><au>Pérez, E</au><au>Dapena, J</au><au>Carrilho, E</au><au>Duarte, A</au><au>Palacio, AM</au><au>Nunes, V</au><au>Lavinha, J</au><au>Estivill, X</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients</atitle><jtitle>Human mutation</jtitle><addtitle>Hum. Mutat</addtitle><date>1997</date><risdate>1997</risdate><volume>10</volume><issue>5</issue><spage>387</spage><epage>392</epage><pages>387-392</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><abstract>We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P< 0.01), as compared to the ΔF508/ΔF508 group. Poor values for lung radiological involvement (Chrispin‐Norman) and general status (Shwachman‐Kulcycki) were observed in the R1066C/any mutation group (P < 0.005 and P < 0.0004). A slightly, but not significantly worse lung function was found in the R1066C/any mutation group when compared with the ΔF508/ΔF508 patients. No significant differences were detected regarding the age at diagnosis, sweat Cl‐values, or percentiles of height and weight between the two groups. Neither were significant differences observed regarding sex, meconium ileus (4.7% vs. 11.1%), dehydration (10.5% vs. 14.7%), or pancreatic insufficiency (PI) (100% vs. 97.8%). The proportion of patients with lung colonization by bacterial pathogens was slightly, but not significantly higher in the R1066C/any mutation group (70.0%), as compared with the ΔF508/ΔF508 group (57.5%). Other clinical complications were significantly more frequent in the R1066C/any mutation patients(P < 0.02) than in the ΔF508/ΔF508 group. The two homozygous R1066C/R1066C patients died at the ages of 3 months and 7 years. The data presented in this study clearly demonstrate that the R1066C mutation is responsible for a severe phenotype similar to that observed in homozygous ΔF508 patients. The poor clinical scores and complications of patients with the R1066C mutation are probably related to their slightly longer survival. Hum Mutat 10:387–392, 1997. © 1997 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>9375855</pmid><doi>10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Child Child, Preschool cystic fibrosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics DNA, Satellite Female genotype/phenotype correlation Heterozygote Homozygote Humans Infant Male Mutation Pedigree Phenotype R1066C mutation |
| title | Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients |
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