A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis
Germ‐line mutations of the RET proto‐oncogene, involving five cysteine residues at codons 609, 611, 618, 620 and 634, are associated with two variants of the inherited cancer syndrome multiple endocrine neoplasia type 2: type 2A and familial medullary thyroid carcinoma. The association of multiple e...
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| Veröffentlicht in: | Clinical genetics 1997-02, Vol.51 (2), p.86-90 |
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| creator | Seri, Marco Celli, Iacopo Betsos, Nicola Claudiani, Franco Camera, Gianni Romeo, Giovanni |
| description | Germ‐line mutations of the RET proto‐oncogene, involving five cysteine residues at codons 609, 611, 618, 620 and 634, are associated with two variants of the inherited cancer syndrome multiple endocrine neoplasia type 2: type 2A and familial medullary thyroid carcinoma. The association of multiple endocrine neoplasia type 2A with the dermatological disorder cutaneous lichen amyloidosis has already been reported, and mutations in the Cys634 have been identified in different families. We describe here an additional pedigree in which multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis cosegregate. A Cys634Gly was identified by direct sequencing of the RET proto‐oncogene exon 11 in the affected individuals. The mutation creates a new HaeIII site, and restriction analysis performed on all family members rules out the presence of the altered allele in two children and consequently the risk of developing thyroid tumors. These results emphasize the role of molecular analysis of the RET proto‐oncogene in diagnosing presymptomatically those individuals at risk of inheriting the disease allele. |
| doi_str_mv | 10.1111/j.1399-0004.1997.tb02425.x |
| format | Article |
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The association of multiple endocrine neoplasia type 2A with the dermatological disorder cutaneous lichen amyloidosis has already been reported, and mutations in the Cys634 have been identified in different families. We describe here an additional pedigree in which multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis cosegregate. A Cys634Gly was identified by direct sequencing of the RET proto‐oncogene exon 11 in the affected individuals. The mutation creates a new HaeIII site, and restriction analysis performed on all family members rules out the presence of the altered allele in two children and consequently the risk of developing thyroid tumors. These results emphasize the role of molecular analysis of the RET proto‐oncogene in diagnosing presymptomatically those individuals at risk of inheriting the disease allele.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.1997.tb02425.x</identifier><identifier>PMID: 9111993</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Amyloidosis - diagnosis ; Amyloidosis - genetics ; Biological and medical sciences ; Child ; cutaneous lichen amyloidosis (CLA) ; Cysteine - genetics ; Deoxyribonucleases, Type II Site-Specific - genetics ; Deoxyribonucleases, Type II Site-Specific - metabolism ; Dermatology ; Drosophila Proteins ; Female ; Glycine - genetics ; Humans ; Lichenoid Eruptions - diagnosis ; Lichenoid Eruptions - genetics ; Male ; Medical sciences ; Middle Aged ; multiple endocrine neoplasia type 2A (MEN2A) ; Multiple Endocrine Neoplasia Type 2a - diagnosis ; Multiple Endocrine Neoplasia Type 2a - genetics ; Mutation ; oncogene ; Pedigree ; presymptomatic diagnosis ; Proto-Oncogene Proteins - genetics ; Proto-Oncogene Proteins - metabolism ; Proto-Oncogene Proteins c-ret ; Receptor Protein-Tyrosine Kinases - genetics ; Receptor Protein-Tyrosine Kinases - metabolism ; RET proto ; Sequence Analysis, DNA ; Skin involvement in other diseases. 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General aspects</subject><ispartof>Clinical genetics, 1997-02, Vol.51 (2), p.86-90</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4356-4d02d33371fec6e9a795142c033dfc648a32897d0bd889f9e8cfa49ee91233683</citedby><cites>FETCH-LOGICAL-c4356-4d02d33371fec6e9a795142c033dfc648a32897d0bd889f9e8cfa49ee91233683</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.1399-0004.1997.tb02425.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.1997.tb02425.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2634032$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9111993$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Seri, Marco</creatorcontrib><creatorcontrib>Celli, Iacopo</creatorcontrib><creatorcontrib>Betsos, Nicola</creatorcontrib><creatorcontrib>Claudiani, Franco</creatorcontrib><creatorcontrib>Camera, Gianni</creatorcontrib><creatorcontrib>Romeo, Giovanni</creatorcontrib><title>A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Germ‐line mutations of the RET proto‐oncogene, involving five cysteine residues at codons 609, 611, 618, 620 and 634, are associated with two variants of the inherited cancer syndrome multiple endocrine neoplasia type 2: type 2A and familial medullary thyroid carcinoma. The association of multiple endocrine neoplasia type 2A with the dermatological disorder cutaneous lichen amyloidosis has already been reported, and mutations in the Cys634 have been identified in different families. We describe here an additional pedigree in which multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis cosegregate. A Cys634Gly was identified by direct sequencing of the RET proto‐oncogene exon 11 in the affected individuals. The mutation creates a new HaeIII site, and restriction analysis performed on all family members rules out the presence of the altered allele in two children and consequently the risk of developing thyroid tumors. These results emphasize the role of molecular analysis of the RET proto‐oncogene in diagnosing presymptomatically those individuals at risk of inheriting the disease allele.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Amyloidosis - diagnosis</subject><subject>Amyloidosis - genetics</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>cutaneous lichen amyloidosis (CLA)</subject><subject>Cysteine - genetics</subject><subject>Deoxyribonucleases, Type II Site-Specific - genetics</subject><subject>Deoxyribonucleases, Type II Site-Specific - metabolism</subject><subject>Dermatology</subject><subject>Drosophila Proteins</subject><subject>Female</subject><subject>Glycine - genetics</subject><subject>Humans</subject><subject>Lichenoid Eruptions - diagnosis</subject><subject>Lichenoid Eruptions - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>multiple endocrine neoplasia type 2A (MEN2A)</subject><subject>Multiple Endocrine Neoplasia Type 2a - diagnosis</subject><subject>Multiple Endocrine Neoplasia Type 2a - genetics</subject><subject>Mutation</subject><subject>oncogene</subject><subject>Pedigree</subject><subject>presymptomatic diagnosis</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Proto-Oncogene Proteins - metabolism</subject><subject>Proto-Oncogene Proteins c-ret</subject><subject>Receptor Protein-Tyrosine Kinases - genetics</subject><subject>Receptor Protein-Tyrosine Kinases - metabolism</subject><subject>RET proto</subject><subject>Sequence Analysis, DNA</subject><subject>Skin involvement in other diseases. Miscellaneous. General aspects</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVktuq1DAUhoMo23HrIwhBxLvWtOkpghfDMFZhPCDbw13IpKtOxrSpScqePomva0rL3JubEP7_W1lZfxB6kZA4Cev1OU4oYxEhJIsTxsrYH0mapXl8eYA2V-kh2oSNRSwp6GP0xLlzONIyZzfohoUyjNEN-rvFu8kVNKv1hN14dF750SvTY9NifwL8dX-HB2u8iUwvzS_oAaseC9yKTgXkXvkTtiBHa6GXMFPdqL0aNGDoGyOtCkQPZtDCKYH9NABOt1j0DZajF0EZHdZKniBU7SZtVGOcck_Ro1ZoB8_W_RZ9e7e_272PDp_rD7vtIZIZzYsoa0jaUErLpAVZABMly5MslYTSppVFVgmaVqxsyLGpKtYyqGQrMgbAkpTSoqK36NVSN7zxzwjO8045CVovnfGyYjTPchaMbxajtMY5Cy0frOqEnXhC-JwKP_N59HwePZ9T4Wsq_BLg5-st47GD5oquMQT95aoLJ4VureilcldbGvIhNA22t4vtXmmY_qMBvqv3VRH4aOGV83C58sL-5kUZfgb_8anm9eHnl4_fDzUv6T90g7pa</recordid><startdate>199702</startdate><enddate>199702</enddate><creator>Seri, Marco</creator><creator>Celli, Iacopo</creator><creator>Betsos, Nicola</creator><creator>Claudiani, Franco</creator><creator>Camera, Gianni</creator><creator>Romeo, Giovanni</creator><general>Blackwell Publishing Ltd</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>199702</creationdate><title>A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis</title><author>Seri, Marco ; Celli, Iacopo ; Betsos, Nicola ; Claudiani, Franco ; Camera, Gianni ; Romeo, Giovanni</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4356-4d02d33371fec6e9a795142c033dfc648a32897d0bd889f9e8cfa49ee91233683</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Amyloidosis - diagnosis</topic><topic>Amyloidosis - genetics</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>cutaneous lichen amyloidosis (CLA)</topic><topic>Cysteine - genetics</topic><topic>Deoxyribonucleases, Type II Site-Specific - genetics</topic><topic>Deoxyribonucleases, Type II Site-Specific - metabolism</topic><topic>Dermatology</topic><topic>Drosophila Proteins</topic><topic>Female</topic><topic>Glycine - genetics</topic><topic>Humans</topic><topic>Lichenoid Eruptions - diagnosis</topic><topic>Lichenoid Eruptions - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>multiple endocrine neoplasia type 2A (MEN2A)</topic><topic>Multiple Endocrine Neoplasia Type 2a - diagnosis</topic><topic>Multiple Endocrine Neoplasia Type 2a - genetics</topic><topic>Mutation</topic><topic>oncogene</topic><topic>Pedigree</topic><topic>presymptomatic diagnosis</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Proto-Oncogene Proteins - metabolism</topic><topic>Proto-Oncogene Proteins c-ret</topic><topic>Receptor Protein-Tyrosine Kinases - genetics</topic><topic>Receptor Protein-Tyrosine Kinases - metabolism</topic><topic>RET proto</topic><topic>Sequence Analysis, DNA</topic><topic>Skin involvement in other diseases. Miscellaneous. General aspects</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Seri, Marco</creatorcontrib><creatorcontrib>Celli, Iacopo</creatorcontrib><creatorcontrib>Betsos, Nicola</creatorcontrib><creatorcontrib>Claudiani, Franco</creatorcontrib><creatorcontrib>Camera, Gianni</creatorcontrib><creatorcontrib>Romeo, Giovanni</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>Seri, Marco</au><au>Celli, Iacopo</au><au>Betsos, Nicola</au><au>Claudiani, Franco</au><au>Camera, Gianni</au><au>Romeo, Giovanni</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>1997-02</date><risdate>1997</risdate><volume>51</volume><issue>2</issue><spage>86</spage><epage>90</epage><pages>86-90</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Germ‐line mutations of the RET proto‐oncogene, involving five cysteine residues at codons 609, 611, 618, 620 and 634, are associated with two variants of the inherited cancer syndrome multiple endocrine neoplasia type 2: type 2A and familial medullary thyroid carcinoma. The association of multiple endocrine neoplasia type 2A with the dermatological disorder cutaneous lichen amyloidosis has already been reported, and mutations in the Cys634 have been identified in different families. We describe here an additional pedigree in which multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis cosegregate. A Cys634Gly was identified by direct sequencing of the RET proto‐oncogene exon 11 in the affected individuals. The mutation creates a new HaeIII site, and restriction analysis performed on all family members rules out the presence of the altered allele in two children and consequently the risk of developing thyroid tumors. These results emphasize the role of molecular analysis of the RET proto‐oncogene in diagnosing presymptomatically those individuals at risk of inheriting the disease allele.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>9111993</pmid><doi>10.1111/j.1399-0004.1997.tb02425.x</doi><tpages>5</tpages></addata></record> |
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| ispartof | Clinical genetics, 1997-02, Vol.51 (2), p.86-90 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adolescent Adult Amyloidosis - diagnosis Amyloidosis - genetics Biological and medical sciences Child cutaneous lichen amyloidosis (CLA) Cysteine - genetics Deoxyribonucleases, Type II Site-Specific - genetics Deoxyribonucleases, Type II Site-Specific - metabolism Dermatology Drosophila Proteins Female Glycine - genetics Humans Lichenoid Eruptions - diagnosis Lichenoid Eruptions - genetics Male Medical sciences Middle Aged multiple endocrine neoplasia type 2A (MEN2A) Multiple Endocrine Neoplasia Type 2a - diagnosis Multiple Endocrine Neoplasia Type 2a - genetics Mutation oncogene Pedigree presymptomatic diagnosis Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins - metabolism Proto-Oncogene Proteins c-ret Receptor Protein-Tyrosine Kinases - genetics Receptor Protein-Tyrosine Kinases - metabolism RET proto Sequence Analysis, DNA Skin involvement in other diseases. Miscellaneous. General aspects |
| title | A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis |
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