Novel deletional mutation of the MEN 1 gene in a kindred with multiple endocrine neoplasia type 1
MEN1 gene mutation in a Japanese kindred with multiple endocrine neoplasia type 1 was examined. A heterozygous deletion involving 29 base pairs in exon 10 (1606del29) was identified in the proband, and the same deletion was found in the affected family members. Most previously reported germline MEN1...
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| Veröffentlicht in: | Clinical genetics 2000-07, Vol.58 (1), p.61-63 |
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| container_title | Clinical genetics |
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| creator | Kakizawa, T Sakurai, A Ikeo, Y Ueno, I Hashizume, K |
| description | MEN1 gene mutation in a Japanese kindred with multiple endocrine neoplasia type 1 was examined. A heterozygous deletion involving 29 base pairs in exon 10 (1606del29) was identified in the proband, and the same deletion was found in the affected family members. Most previously reported germline MEN1 gene mutations are nucleotide substitutions and small insertions/deletions, and a large deletion is rare. The hairpin structure mediated by an incomplete palindromic sequence at deletion termini is the most likely mechanism to be associated with the deletion in the present family. |
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A heterozygous deletion involving 29 base pairs in exon 10 (1606del29) was identified in the proband, and the same deletion was found in the affected family members. Most previously reported germline MEN1 gene mutations are nucleotide substitutions and small insertions/deletions, and a large deletion is rare. 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A heterozygous deletion involving 29 base pairs in exon 10 (1606del29) was identified in the proband, and the same deletion was found in the affected family members. Most previously reported germline MEN1 gene mutations are nucleotide substitutions and small insertions/deletions, and a large deletion is rare. The hairpin structure mediated by an incomplete palindromic sequence at deletion termini is the most likely mechanism to be associated with the deletion in the present family.</description><subject>Adult</subject><subject>DNA - blood</subject><subject>DNA Mutational Analysis</subject><subject>Electrophoresis, Agar Gel</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>Humans</subject><subject>Hypercalcemia - genetics</subject><subject>Hyperparathyroidism - genetics</subject><subject>Male</subject><subject>Multiple Endocrine Neoplasia Type 1 - genetics</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Sequence Deletion</subject><issn>0009-9163</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kMtOwzAURL0A0VL4BXRX7CLZceIkS1SVh1TKpvvoxr6mBudB7ID69wS1rGZGOhqN5oItOedVUgklF-w6hI85yiKvrthC8CrLlZJLhrv-mzwY8hRd36GHdor4Z6G3EA8Er5sdCHinjsB1gPDpOjOSgR8XDzPsoxs8AXWm16OboY76wWNwCPE4EIgbdmnRB7o964rtHzf79XOyfXt6WT9skyHPZNKgKJGEFLmRwqbEbZmjxTS1vOQGS8xSbo3VWktZSSW0VbY02KC0uRVayBW7P9UOY_81UYh164Im73EeNIW6EEVWKVXM4N0ZnJqWTD2MrsXxWP9_In8B2rVdZw</recordid><startdate>200007</startdate><enddate>200007</enddate><creator>Kakizawa, T</creator><creator>Sakurai, A</creator><creator>Ikeo, Y</creator><creator>Ueno, I</creator><creator>Hashizume, K</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200007</creationdate><title>Novel deletional mutation of the MEN 1 gene in a kindred with multiple endocrine neoplasia type 1</title><author>Kakizawa, T ; Sakurai, A ; Ikeo, Y ; Ueno, I ; Hashizume, K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p543-ba18ae1315d31f2e0f85afa22f080da8a420fdfccc339361cf6f8daba3f5f1c13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>DNA - blood</topic><topic>DNA Mutational Analysis</topic><topic>Electrophoresis, Agar Gel</topic><topic>Female</topic><topic>Frameshift Mutation</topic><topic>Humans</topic><topic>Hypercalcemia - genetics</topic><topic>Hyperparathyroidism - genetics</topic><topic>Male</topic><topic>Multiple Endocrine Neoplasia Type 1 - genetics</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kakizawa, T</creatorcontrib><creatorcontrib>Sakurai, A</creatorcontrib><creatorcontrib>Ikeo, Y</creatorcontrib><creatorcontrib>Ueno, I</creatorcontrib><creatorcontrib>Hashizume, K</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kakizawa, T</au><au>Sakurai, A</au><au>Ikeo, Y</au><au>Ueno, I</au><au>Hashizume, K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel deletional mutation of the MEN 1 gene in a kindred with multiple endocrine neoplasia type 1</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2000-07</date><risdate>2000</risdate><volume>58</volume><issue>1</issue><spage>61</spage><epage>63</epage><pages>61-63</pages><issn>0009-9163</issn><abstract>MEN1 gene mutation in a Japanese kindred with multiple endocrine neoplasia type 1 was examined. A heterozygous deletion involving 29 base pairs in exon 10 (1606del29) was identified in the proband, and the same deletion was found in the affected family members. Most previously reported germline MEN1 gene mutations are nucleotide substitutions and small insertions/deletions, and a large deletion is rare. The hairpin structure mediated by an incomplete palindromic sequence at deletion termini is the most likely mechanism to be associated with the deletion in the present family.</abstract><cop>Denmark</cop><pmid>10945663</pmid><tpages>3</tpages></addata></record> |
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| ispartof | Clinical genetics, 2000-07, Vol.58 (1), p.61-63 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult DNA - blood DNA Mutational Analysis Electrophoresis, Agar Gel Female Frameshift Mutation Humans Hypercalcemia - genetics Hyperparathyroidism - genetics Male Multiple Endocrine Neoplasia Type 1 - genetics Pedigree Polymerase Chain Reaction Sequence Deletion |
| title | Novel deletional mutation of the MEN 1 gene in a kindred with multiple endocrine neoplasia type 1 |
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