Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio
A subset of spherocytosis cases associated with mutations of the ANK1 gene present an apparently recessive inheritance pattern on a clinical and haematological basis. We identified three novel out‐of‐frame deletions in the ANK1 gene: allele Bari (1361delG), Napoli II (2883delC) and Anzio (3032delCA)...
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| Veröffentlicht in: | British journal of haematology 1997-03, Vol.96 (3), p.500-506 |
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| container_title | British journal of haematology |
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| creator | RANDON, J. MIRAGLIA DEL GIUDICE, E. BOZON, M. PERROTTA, S. DE VIVO, M. IOLASCON, A. DELAUNAY, J. MORLE, L. |
| description | A subset of spherocytosis cases associated with mutations of the ANK1 gene present an apparently recessive inheritance pattern on a clinical and haematological basis. We identified three novel out‐of‐frame deletions in the ANK1 gene: allele Bari (1361delG), Napoli II (2883delC) and Anzio (3032delCA) in three Italian patients, two of whom have been splenectomized. Analysis of the cDNA showed small or trace amounts of ankyrin mRNAs in Bari, Napoli II and Anzio. The parents were normal clinically and haematologically and did not carry the mutations exhibited by their children. We confirmed the de novo character of the HS mutations based on paternity testing. Recessive HS associated with the ANK1 gene is probably rarer than initially thought, and spherocytosis may often be due to de novo mutations. |
| doi_str_mv | 10.1046/j.1365-2141.1997.d01-2074.x |
| format | Article |
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We identified three novel out‐of‐frame deletions in the ANK1 gene: allele Bari (1361delG), Napoli II (2883delC) and Anzio (3032delCA) in three Italian patients, two of whom have been splenectomized. Analysis of the cDNA showed small or trace amounts of ankyrin mRNAs in Bari, Napoli II and Anzio. The parents were normal clinically and haematologically and did not carry the mutations exhibited by their children. We confirmed the de novo character of the HS mutations based on paternity testing. Recessive HS associated with the ANK1 gene is probably rarer than initially thought, and spherocytosis may often be due to de novo mutations.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1046/j.1365-2141.1997.d01-2074.x</identifier><identifier>PMID: 9054656</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, U.K. and Cambridge, USA: Blackwell Publishing Ltd</publisher><subject>Anemias. Hemoglobinopathies ; Ankyrins - genetics ; Biological and medical sciences ; Diseases of red blood cells ; Female ; Hematologic and hematopoietic diseases ; Humans ; Male ; Medical sciences ; Mutation ; Pedigree ; Polymerase Chain Reaction ; RNA, Messenger - genetics ; Sequence Analysis, DNA ; spherocytosis, ankyrin, de novo mutations ; Spherocytosis, Hereditary - genetics</subject><ispartof>British journal of haematology, 1997-03, Vol.96 (3), p.500-506</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4015-1333c22f5dc028d31a3891bee3308c9035a445458aff230e08d853f3ec7aa3f33</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1046%2Fj.1365-2141.1997.d01-2074.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1046%2Fj.1365-2141.1997.d01-2074.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2591979$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9054656$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>RANDON, J.</creatorcontrib><creatorcontrib>MIRAGLIA DEL GIUDICE, E.</creatorcontrib><creatorcontrib>BOZON, M.</creatorcontrib><creatorcontrib>PERROTTA, S.</creatorcontrib><creatorcontrib>DE VIVO, M.</creatorcontrib><creatorcontrib>IOLASCON, A.</creatorcontrib><creatorcontrib>DELAUNAY, J.</creatorcontrib><creatorcontrib>MORLE, L.</creatorcontrib><title>Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>A subset of spherocytosis cases associated with mutations of the ANK1 gene present an apparently recessive inheritance pattern on a clinical and haematological basis. We identified three novel out‐of‐frame deletions in the ANK1 gene: allele Bari (1361delG), Napoli II (2883delC) and Anzio (3032delCA) in three Italian patients, two of whom have been splenectomized. Analysis of the cDNA showed small or trace amounts of ankyrin mRNAs in Bari, Napoli II and Anzio. The parents were normal clinically and haematologically and did not carry the mutations exhibited by their children. We confirmed the de novo character of the HS mutations based on paternity testing. Recessive HS associated with the ANK1 gene is probably rarer than initially thought, and spherocytosis may often be due to de novo mutations.</description><subject>Anemias. Hemoglobinopathies</subject><subject>Ankyrins - genetics</subject><subject>Biological and medical sciences</subject><subject>Diseases of red blood cells</subject><subject>Female</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>RNA, Messenger - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>spherocytosis, ankyrin, de novo mutations</subject><subject>Spherocytosis, Hereditary - genetics</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVUU1vEzEQtRCohLY_AckSiBO72Gt7P-CA0qqlgaq9lLPlemepw64d7E3a9C_xJ5lVotw5jTzvvXmeeYS84yznTJafljkXpcoKLnnOm6bKW8azglUyf3pBZgfsJZkxxqoMNfVr8ialJWNcMMWPyFHDlCxVOSN_LyP8WYMfaQvUh02gw3o0ows-0dDR8QHo_OYHp7_AAx3c4Cw1NIKFlNwGOwFlEy8anwaHzeCp8_QBIrRuNHFL0wofwW7HkFz6jBMjoBM87uZuTHTGjwgY_3sbHdqeYesjvTGr0Du6WCDQ0rl_duGEvOpMn-B0X4_Jz8uLu_Or7Pr22-J8fp1ZybjKuBDCFkWnWsuKuhXciLrh9wBCsNo2TCgjpZKqNl1XCAasbmslOgG2MgarOCYfdnNXMeBt0qhxMwt9bzyEddJVXZeFLDkSv-yINoaUInR6Fd2AS2vO9BSVXuopDj3FoaeoNEalp6j0E6rf7m3W9wO0B-0-G8Tf73GTrOk7PLF16UArVMObqkHa1x3t0fWw_Z8f6LPvV41U4h_q-7Gd</recordid><startdate>199703</startdate><enddate>199703</enddate><creator>RANDON, J.</creator><creator>MIRAGLIA DEL GIUDICE, E.</creator><creator>BOZON, M.</creator><creator>PERROTTA, S.</creator><creator>DE VIVO, M.</creator><creator>IOLASCON, A.</creator><creator>DELAUNAY, J.</creator><creator>MORLE, L.</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</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>7X8</scope></search><sort><creationdate>199703</creationdate><title>Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio</title><author>RANDON, J. ; MIRAGLIA DEL GIUDICE, E. ; BOZON, M. ; PERROTTA, S. ; DE VIVO, M. ; IOLASCON, A. ; DELAUNAY, J. ; MORLE, L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4015-1333c22f5dc028d31a3891bee3308c9035a445458aff230e08d853f3ec7aa3f33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Anemias. Hemoglobinopathies</topic><topic>Ankyrins - genetics</topic><topic>Biological and medical sciences</topic><topic>Diseases of red blood cells</topic><topic>Female</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>RNA, Messenger - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>spherocytosis, ankyrin, de novo mutations</topic><topic>Spherocytosis, Hereditary - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>RANDON, J.</creatorcontrib><creatorcontrib>MIRAGLIA DEL GIUDICE, E.</creatorcontrib><creatorcontrib>BOZON, M.</creatorcontrib><creatorcontrib>PERROTTA, S.</creatorcontrib><creatorcontrib>DE VIVO, M.</creatorcontrib><creatorcontrib>IOLASCON, A.</creatorcontrib><creatorcontrib>DELAUNAY, J.</creatorcontrib><creatorcontrib>MORLE, L.</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>MEDLINE - Academic</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>RANDON, J.</au><au>MIRAGLIA DEL GIUDICE, E.</au><au>BOZON, M.</au><au>PERROTTA, S.</au><au>DE VIVO, M.</au><au>IOLASCON, A.</au><au>DELAUNAY, J.</au><au>MORLE, L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>1997-03</date><risdate>1997</risdate><volume>96</volume><issue>3</issue><spage>500</spage><epage>506</epage><pages>500-506</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><abstract>A subset of spherocytosis cases associated with mutations of the ANK1 gene present an apparently recessive inheritance pattern on a clinical and haematological basis. We identified three novel out‐of‐frame deletions in the ANK1 gene: allele Bari (1361delG), Napoli II (2883delC) and Anzio (3032delCA) in three Italian patients, two of whom have been splenectomized. Analysis of the cDNA showed small or trace amounts of ankyrin mRNAs in Bari, Napoli II and Anzio. The parents were normal clinically and haematologically and did not carry the mutations exhibited by their children. We confirmed the de novo character of the HS mutations based on paternity testing. Recessive HS associated with the ANK1 gene is probably rarer than initially thought, and spherocytosis may often be due to de novo mutations.</abstract><cop>Oxford, U.K. and Cambridge, USA</cop><pub>Blackwell Publishing Ltd</pub><pmid>9054656</pmid><doi>10.1046/j.1365-2141.1997.d01-2074.x</doi><tpages>7</tpages></addata></record> |
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| subjects | Anemias. Hemoglobinopathies Ankyrins - genetics Biological and medical sciences Diseases of red blood cells Female Hematologic and hematopoietic diseases Humans Male Medical sciences Mutation Pedigree Polymerase Chain Reaction RNA, Messenger - genetics Sequence Analysis, DNA spherocytosis, ankyrin, de novo mutations Spherocytosis, Hereditary - genetics |
| title | Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio |
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