Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?
We report on a 6-month-old premature boy from consanguineous parents. He presented with respiratory distress, necrotizing enterocolitis and hyperbilirubinemia shortly after birth. Persisting respiratory symptoms and failure to thrive prompted cystic fibrosis diagnostics, which showed the lack of wil...
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| Veröffentlicht in: | European journal of pediatrics 2012-07, Vol.171 (7), p.1039-1046 |
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| container_title | European journal of pediatrics |
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| creator | Hentschel, Julia Riesener, Gabriele Nelle, Heike Stuhrmann, Manfred Schöner, Anja Sommerburg, Olaf Fritzsching, Eva Mall, Marcus A. von Eggeling, Ferdinand Mainz, Jochen G. |
| description | We report on a 6-month-old premature boy from consanguineous parents. He presented with respiratory distress, necrotizing enterocolitis and hyperbilirubinemia shortly after birth. Persisting respiratory symptoms and failure to thrive prompted cystic fibrosis diagnostics, which showed the lack of wild-type signal for the mutation R347P suggesting a homozygous deletion or an alteration different from the known mutation at this position. Sequencing of this region revealed the homozygous substitution 1175 T > A (HGVS: c.1043 T > A) in exon 7 resulting in the homozygous amino acid change M348K. This mutation has never been reported in homozygosity before. Computational analysis tools classified M348K as ‘presumably disease causing.’ In our patient, sweat testing and electrophysiological assessment of CFTR function in native rectal epithelium demonstrated normal Cl
−
secretion.
Conclusion:
We assume that the homozygous alteration M348K is a harmless variant rather than a CF-causing mutation. |
| doi_str_mv | 10.1007/s00431-012-1672-1 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1753481046</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1021452638</sourcerecordid><originalsourceid>FETCH-LOGICAL-c435t-c244453671f4e7bcdae44628d93624204351a80c416916cbcb510d711a0cadb43</originalsourceid><addsrcrecordid>eNqFkd9qFDEUxoModq0-gDcSEMGbqTn5O3MlZW2tWBGkXg-ZTGabMpOsSUaZvoCvbdZdrQjiTRKS3_lOvvMh9BTICRCiXiVCOIOKAK1AqrLcQyvgrByIkvfRijBOKglNc4QepXRDSk0D9UN0RClVvGZshb5fhCncLpswJ7w-v_qEpznr7ILHHxiv32PnscZdWPA3l69xtGnros4hLjgt0zaHKWHtezxoN87R4hxwvo7uqz3Bb1yyOtnK6Dk5v7kTDhF31rtNUR6zjT8vXz9GDwY9JvvksB-jz-dnV-uL6vLj23fr08vKcCZyZSjnXDCpYOBWdabXlnNJ675hknJaxiFA18RwkA1I05lOAOkVgCZG9x1nx-jlXncbw5fZptxOLhk7jtrbMoMWlCi-gXD5f5RQ4IJKVhf0-V_oTZijL0YK1QjRKEF3vWFPmRhSinZot9FNOi4FaneBtvtA2xJouwu0hVLz7KA8d5Ptf1f8SrAALw6ATkaPQ9TeuHTHSaC1qHdu6J5L5clvbPzzi__q_gMZd7cJ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1095597524</pqid></control><display><type>article</type><title>Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?</title><source>MEDLINE</source><source>SpringerLink (Online service)</source><creator>Hentschel, Julia ; Riesener, Gabriele ; Nelle, Heike ; Stuhrmann, Manfred ; Schöner, Anja ; Sommerburg, Olaf ; Fritzsching, Eva ; Mall, Marcus A. ; von Eggeling, Ferdinand ; Mainz, Jochen G.</creator><creatorcontrib>Hentschel, Julia ; Riesener, Gabriele ; Nelle, Heike ; Stuhrmann, Manfred ; Schöner, Anja ; Sommerburg, Olaf ; Fritzsching, Eva ; Mall, Marcus A. ; von Eggeling, Ferdinand ; Mainz, Jochen G.</creatorcontrib><description>We report on a 6-month-old premature boy from consanguineous parents. He presented with respiratory distress, necrotizing enterocolitis and hyperbilirubinemia shortly after birth. Persisting respiratory symptoms and failure to thrive prompted cystic fibrosis diagnostics, which showed the lack of wild-type signal for the mutation R347P suggesting a homozygous deletion or an alteration different from the known mutation at this position. Sequencing of this region revealed the homozygous substitution 1175 T > A (HGVS: c.1043 T > A) in exon 7 resulting in the homozygous amino acid change M348K. This mutation has never been reported in homozygosity before. Computational analysis tools classified M348K as ‘presumably disease causing.’ In our patient, sweat testing and electrophysiological assessment of CFTR function in native rectal epithelium demonstrated normal Cl
−
secretion.
Conclusion:
We assume that the homozygous alteration M348K is a harmless variant rather than a CF-causing mutation.</description><identifier>ISSN: 0340-6199</identifier><identifier>EISSN: 1432-1076</identifier><identifier>DOI: 10.1007/s00431-012-1672-1</identifier><identifier>PMID: 22274833</identifier><identifier>CODEN: EJPEDT</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer-Verlag</publisher><subject>Biological and medical sciences ; Biopsy ; Cystic fibrosis ; Cystic Fibrosis - complications ; Cystic Fibrosis - diagnosis ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Errors of metabolism ; Failure to thrive ; Failure to Thrive - etiology ; General aspects ; Genetic Markers ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases - diagnosis ; Infant, Premature, Diseases - genetics ; Male ; Medical sciences ; Medicine ; Medicine & Public Health ; Metabolic diseases ; Miscellaneous hereditary metabolic disorders ; Mutation ; Original Article ; Patients ; Pediatrics ; Pneumology ; Point Mutation ; Respiratory Insufficiency - etiology ; Respiratory system : syndromes and miscellaneous diseases ; Staphylococcus infections</subject><ispartof>European journal of pediatrics, 2012-07, Vol.171 (7), p.1039-1046</ispartof><rights>Springer-Verlag 2012</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c435t-c244453671f4e7bcdae44628d93624204351a80c416916cbcb510d711a0cadb43</citedby><cites>FETCH-LOGICAL-c435t-c244453671f4e7bcdae44628d93624204351a80c416916cbcb510d711a0cadb43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00431-012-1672-1$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00431-012-1672-1$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=26128586$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22274833$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hentschel, Julia</creatorcontrib><creatorcontrib>Riesener, Gabriele</creatorcontrib><creatorcontrib>Nelle, Heike</creatorcontrib><creatorcontrib>Stuhrmann, Manfred</creatorcontrib><creatorcontrib>Schöner, Anja</creatorcontrib><creatorcontrib>Sommerburg, Olaf</creatorcontrib><creatorcontrib>Fritzsching, Eva</creatorcontrib><creatorcontrib>Mall, Marcus A.</creatorcontrib><creatorcontrib>von Eggeling, Ferdinand</creatorcontrib><creatorcontrib>Mainz, Jochen G.</creatorcontrib><title>Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?</title><title>European journal of pediatrics</title><addtitle>Eur J Pediatr</addtitle><addtitle>Eur J Pediatr</addtitle><description>We report on a 6-month-old premature boy from consanguineous parents. He presented with respiratory distress, necrotizing enterocolitis and hyperbilirubinemia shortly after birth. Persisting respiratory symptoms and failure to thrive prompted cystic fibrosis diagnostics, which showed the lack of wild-type signal for the mutation R347P suggesting a homozygous deletion or an alteration different from the known mutation at this position. Sequencing of this region revealed the homozygous substitution 1175 T > A (HGVS: c.1043 T > A) in exon 7 resulting in the homozygous amino acid change M348K. This mutation has never been reported in homozygosity before. Computational analysis tools classified M348K as ‘presumably disease causing.’ In our patient, sweat testing and electrophysiological assessment of CFTR function in native rectal epithelium demonstrated normal Cl
−
secretion.
Conclusion:
We assume that the homozygous alteration M348K is a harmless variant rather than a CF-causing mutation.</description><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Cystic fibrosis</subject><subject>Cystic Fibrosis - complications</subject><subject>Cystic Fibrosis - diagnosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Errors of metabolism</subject><subject>Failure to thrive</subject><subject>Failure to Thrive - etiology</subject><subject>General aspects</subject><subject>Genetic Markers</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infant, Premature</subject><subject>Infant, Premature, Diseases - diagnosis</subject><subject>Infant, Premature, Diseases - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Mutation</subject><subject>Original Article</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Pneumology</subject><subject>Point Mutation</subject><subject>Respiratory Insufficiency - etiology</subject><subject>Respiratory system : syndromes and miscellaneous diseases</subject><subject>Staphylococcus infections</subject><issn>0340-6199</issn><issn>1432-1076</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkd9qFDEUxoModq0-gDcSEMGbqTn5O3MlZW2tWBGkXg-ZTGabMpOsSUaZvoCvbdZdrQjiTRKS3_lOvvMh9BTICRCiXiVCOIOKAK1AqrLcQyvgrByIkvfRijBOKglNc4QepXRDSk0D9UN0RClVvGZshb5fhCncLpswJ7w-v_qEpznr7ILHHxiv32PnscZdWPA3l69xtGnros4hLjgt0zaHKWHtezxoN87R4hxwvo7uqz3Bb1yyOtnK6Dk5v7kTDhF31rtNUR6zjT8vXz9GDwY9JvvksB-jz-dnV-uL6vLj23fr08vKcCZyZSjnXDCpYOBWdabXlnNJ675hknJaxiFA18RwkA1I05lOAOkVgCZG9x1nx-jlXncbw5fZptxOLhk7jtrbMoMWlCi-gXD5f5RQ4IJKVhf0-V_oTZijL0YK1QjRKEF3vWFPmRhSinZot9FNOi4FaneBtvtA2xJouwu0hVLz7KA8d5Ptf1f8SrAALw6ATkaPQ9TeuHTHSaC1qHdu6J5L5clvbPzzi__q_gMZd7cJ</recordid><startdate>20120701</startdate><enddate>20120701</enddate><creator>Hentschel, Julia</creator><creator>Riesener, Gabriele</creator><creator>Nelle, Heike</creator><creator>Stuhrmann, Manfred</creator><creator>Schöner, Anja</creator><creator>Sommerburg, Olaf</creator><creator>Fritzsching, Eva</creator><creator>Mall, Marcus A.</creator><creator>von Eggeling, Ferdinand</creator><creator>Mainz, Jochen G.</creator><general>Springer-Verlag</general><general>Springer</general><general>Springer Nature B.V</general><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>3V.</scope><scope>7RV</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20120701</creationdate><title>Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. 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diagnosis</topic><topic>Infant, Premature, Diseases - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Mutation</topic><topic>Original Article</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>Pneumology</topic><topic>Point Mutation</topic><topic>Respiratory Insufficiency - etiology</topic><topic>Respiratory system : syndromes and miscellaneous diseases</topic><topic>Staphylococcus infections</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hentschel, Julia</creatorcontrib><creatorcontrib>Riesener, Gabriele</creatorcontrib><creatorcontrib>Nelle, Heike</creatorcontrib><creatorcontrib>Stuhrmann, Manfred</creatorcontrib><creatorcontrib>Schöner, Anja</creatorcontrib><creatorcontrib>Sommerburg, Olaf</creatorcontrib><creatorcontrib>Fritzsching, Eva</creatorcontrib><creatorcontrib>Mall, Marcus A.</creatorcontrib><creatorcontrib>von Eggeling, Ferdinand</creatorcontrib><creatorcontrib>Mainz, Jochen G.</creatorcontrib><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>ProQuest Central (Corporate)</collection><collection>ProQuest Nursing and Allied Health Journals</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Public Health Database</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)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>Consumer Health Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - 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Disease-causing mutation or benign alteration?</atitle><jtitle>European journal of pediatrics</jtitle><stitle>Eur J Pediatr</stitle><addtitle>Eur J Pediatr</addtitle><date>2012-07-01</date><risdate>2012</risdate><volume>171</volume><issue>7</issue><spage>1039</spage><epage>1046</epage><pages>1039-1046</pages><issn>0340-6199</issn><eissn>1432-1076</eissn><coden>EJPEDT</coden><abstract>We report on a 6-month-old premature boy from consanguineous parents. He presented with respiratory distress, necrotizing enterocolitis and hyperbilirubinemia shortly after birth. Persisting respiratory symptoms and failure to thrive prompted cystic fibrosis diagnostics, which showed the lack of wild-type signal for the mutation R347P suggesting a homozygous deletion or an alteration different from the known mutation at this position. Sequencing of this region revealed the homozygous substitution 1175 T > A (HGVS: c.1043 T > A) in exon 7 resulting in the homozygous amino acid change M348K. This mutation has never been reported in homozygosity before. Computational analysis tools classified M348K as ‘presumably disease causing.’ In our patient, sweat testing and electrophysiological assessment of CFTR function in native rectal epithelium demonstrated normal Cl
−
secretion.
Conclusion:
We assume that the homozygous alteration M348K is a harmless variant rather than a CF-causing mutation.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer-Verlag</pub><pmid>22274833</pmid><doi>10.1007/s00431-012-1672-1</doi><tpages>8</tpages></addata></record> |
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| subjects | Biological and medical sciences Biopsy Cystic fibrosis Cystic Fibrosis - complications Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Errors of metabolism Failure to thrive Failure to Thrive - etiology General aspects Genetic Markers Homozygote Humans Infant Infant, Newborn Infant, Premature Infant, Premature, Diseases - diagnosis Infant, Premature, Diseases - genetics Male Medical sciences Medicine Medicine & Public Health Metabolic diseases Miscellaneous hereditary metabolic disorders Mutation Original Article Patients Pediatrics Pneumology Point Mutation Respiratory Insufficiency - etiology Respiratory system : syndromes and miscellaneous diseases Staphylococcus infections |
| title | Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration? |
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