Homozygotes for the autosomal dominant neoplasia syndrome (MENI)
Families in which both parents are heterozygotes for the same autosomal dominant neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity to evaluate three symptomatic siblings from the union between two unrelated individuals affected by multiple endocrine neoplasia type 1 (...
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| Veröffentlicht in: | American journal of human genetics 1993-12, Vol.53 (6), p.1167-1172 |
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| creator | BRANDI, M. L WEBER, G SVENSSON, A FALCHETTI, A TONELLI, F CASTELLO, R FURLANI, L SCAPPATICCI, S FRACCARO, M LARSSON, C |
| description | Families in which both parents are heterozygotes for the same autosomal dominant neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity to evaluate three symptomatic siblings from the union between two unrelated individuals affected by multiple endocrine neoplasia type 1 (MEN1). When the three siblings and their parents and relatives were genotyped for 12 markers tightly linked to the MEN1 locus, at 11q13, two of the siblings were found to be homozygotes, and one a heterozygote, for MEN1. With regard to the MEN1 syndrome, no phenotypic differences were observed between the two homozygotes and the heterozygotes. However, the two homozygotes showed unexplained infertility, which was not the case for any of the heterozygotes. Thus, MEN1 appears to be a disease with complete dominance, and the presence of two MEN1 alleles with mutations of the type that occur constitutionally may be insufficient for tumor development. |
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L ; WEBER, G ; SVENSSON, A ; FALCHETTI, A ; TONELLI, F ; CASTELLO, R ; FURLANI, L ; SCAPPATICCI, S ; FRACCARO, M ; LARSSON, C</creator><creatorcontrib>BRANDI, M. L ; WEBER, G ; SVENSSON, A ; FALCHETTI, A ; TONELLI, F ; CASTELLO, R ; FURLANI, L ; SCAPPATICCI, S ; FRACCARO, M ; LARSSON, C</creatorcontrib><description>Families in which both parents are heterozygotes for the same autosomal dominant neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity to evaluate three symptomatic siblings from the union between two unrelated individuals affected by multiple endocrine neoplasia type 1 (MEN1). When the three siblings and their parents and relatives were genotyped for 12 markers tightly linked to the MEN1 locus, at 11q13, two of the siblings were found to be homozygotes, and one a heterozygote, for MEN1. With regard to the MEN1 syndrome, no phenotypic differences were observed between the two homozygotes and the heterozygotes. However, the two homozygotes showed unexplained infertility, which was not the case for any of the heterozygotes. Thus, MEN1 appears to be a disease with complete dominance, and the presence of two MEN1 alleles with mutations of the type that occur constitutionally may be insufficient for tumor development.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 7902670</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Adrenal Cortex Neoplasms - genetics ; Adult ; Aged ; alleles ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; CHROMOSOMES ; Chromosomes, Human, Pair 11 ; DISEASES ; ENDOCRINE DISEASES ; Endocrinopathies ; Female ; GENE MUTATIONS ; General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes ; Genes, Dominant ; GENETIC MAPPING ; Genetic Markers ; Genotype ; Haplotypes ; homozygosity ; Homozygote ; HUMAN CHROMOSOMES ; Humans ; Hypercalcemia - genetics ; Hyperparathyroidism - genetics ; Hyperparathyroidism - surgery ; Hyperplasia ; Infertility - genetics ; Karyotyping ; Male ; man ; MAPPING ; Medical sciences ; Middle Aged ; multiple endocrine neoplasia ; Multiple Endocrine Neoplasia - genetics ; mutation ; MUTATIONS 550400 -- Genetics ; NEOPLASMS ; Pancreatic Neoplasms - genetics ; Parathyroid Glands - pathology ; Pedigree ; phenotypes ; Pituitary Neoplasms - genetics ; Polymorphism, Restriction Fragment Length ; type 1</subject><ispartof>American journal of human genetics, 1993-12, Vol.53 (6), p.1167-1172</ispartof><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682503/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682503/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3806813$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7902670$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/5429198$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>BRANDI, M. L</creatorcontrib><creatorcontrib>WEBER, G</creatorcontrib><creatorcontrib>SVENSSON, A</creatorcontrib><creatorcontrib>FALCHETTI, A</creatorcontrib><creatorcontrib>TONELLI, F</creatorcontrib><creatorcontrib>CASTELLO, R</creatorcontrib><creatorcontrib>FURLANI, L</creatorcontrib><creatorcontrib>SCAPPATICCI, S</creatorcontrib><creatorcontrib>FRACCARO, M</creatorcontrib><creatorcontrib>LARSSON, C</creatorcontrib><title>Homozygotes for the autosomal dominant neoplasia syndrome (MENI)</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Families in which both parents are heterozygotes for the same autosomal dominant neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity to evaluate three symptomatic siblings from the union between two unrelated individuals affected by multiple endocrine neoplasia type 1 (MEN1). When the three siblings and their parents and relatives were genotyped for 12 markers tightly linked to the MEN1 locus, at 11q13, two of the siblings were found to be homozygotes, and one a heterozygote, for MEN1. With regard to the MEN1 syndrome, no phenotypic differences were observed between the two homozygotes and the heterozygotes. However, the two homozygotes showed unexplained infertility, which was not the case for any of the heterozygotes. Thus, MEN1 appears to be a disease with complete dominance, and the presence of two MEN1 alleles with mutations of the type that occur constitutionally may be insufficient for tumor development.</description><subject>Adrenal Cortex Neoplasms - genetics</subject><subject>Adult</subject><subject>Aged</subject><subject>alleles</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Human, Pair 11</subject><subject>DISEASES</subject><subject>ENDOCRINE DISEASES</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>GENE MUTATIONS</subject><subject>General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes</subject><subject>Genes, Dominant</subject><subject>GENETIC MAPPING</subject><subject>Genetic Markers</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>homozygosity</subject><subject>Homozygote</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>Hypercalcemia - genetics</subject><subject>Hyperparathyroidism - genetics</subject><subject>Hyperparathyroidism - surgery</subject><subject>Hyperplasia</subject><subject>Infertility - genetics</subject><subject>Karyotyping</subject><subject>Male</subject><subject>man</subject><subject>MAPPING</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>multiple endocrine neoplasia</subject><subject>Multiple Endocrine Neoplasia - genetics</subject><subject>mutation</subject><subject>MUTATIONS 550400 -- Genetics</subject><subject>NEOPLASMS</subject><subject>Pancreatic Neoplasms - genetics</subject><subject>Parathyroid Glands - pathology</subject><subject>Pedigree</subject><subject>phenotypes</subject><subject>Pituitary Neoplasms - genetics</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>type 1</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtLw0AUhYMotVZ_ghBERBeBeSTz2IhSqhaqbnQ9TObRjiQzNTMR6q830FJ05eouzse5h3MOsjGsMC0IAdVhNgYAoIIjTo-zkxg_AICQATzKRpQDRCgYZ3dPoQ3fm2VIJuY2dHlamVz2KcTQyibXoXVe-pR7E9aNjE7mceN1F1qTXz_PXuY3p9mRlU00Z7s7yd4fZm_Tp2Lx-jif3i-KgEuWCk0rpWtkaMkVptpaCTRCktcU20prq4bYNa0ra5WlJagVZYCXNddIYagQwZPsduu77uvWaGV86mQj1p1rZbcRQTrxV_FuJZbhS0DCUAXwYHCxNQgxORGVS0atVPDeqCSqEnHI2QBd7b504bM3MYnWRWWaRg4F9FFQAlhFOfoXhIRSNLQ9gOe_c-8D7xYY9MudLqOSje2kVy7uMcwAYRDjH31UkM8</recordid><startdate>19931201</startdate><enddate>19931201</enddate><creator>BRANDI, M. L</creator><creator>WEBER, G</creator><creator>SVENSSON, A</creator><creator>FALCHETTI, A</creator><creator>TONELLI, F</creator><creator>CASTELLO, R</creator><creator>FURLANI, L</creator><creator>SCAPPATICCI, S</creator><creator>FRACCARO, M</creator><creator>LARSSON, C</creator><general>University of Chicago Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>OTOTI</scope><scope>5PM</scope></search><sort><creationdate>19931201</creationdate><title>Homozygotes for the autosomal dominant neoplasia syndrome (MENI)</title><author>BRANDI, M. L ; WEBER, G ; SVENSSON, A ; FALCHETTI, A ; TONELLI, F ; CASTELLO, R ; FURLANI, L ; SCAPPATICCI, S ; FRACCARO, M ; LARSSON, C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-o348t-d75cdb2e749c37dffa0d22a9b73f5ddfc153b7b5ffcf740bc78094b9d2c31c263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Adrenal Cortex Neoplasms - genetics</topic><topic>Adult</topic><topic>Aged</topic><topic>alleles</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Human, Pair 11</topic><topic>DISEASES</topic><topic>ENDOCRINE DISEASES</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>GENE MUTATIONS</topic><topic>General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes</topic><topic>Genes, Dominant</topic><topic>GENETIC MAPPING</topic><topic>Genetic Markers</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>homozygosity</topic><topic>Homozygote</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>Hypercalcemia - genetics</topic><topic>Hyperparathyroidism - genetics</topic><topic>Hyperparathyroidism - surgery</topic><topic>Hyperplasia</topic><topic>Infertility - genetics</topic><topic>Karyotyping</topic><topic>Male</topic><topic>man</topic><topic>MAPPING</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>multiple endocrine neoplasia</topic><topic>Multiple Endocrine Neoplasia - genetics</topic><topic>mutation</topic><topic>MUTATIONS 550400 -- Genetics</topic><topic>NEOPLASMS</topic><topic>Pancreatic Neoplasms - genetics</topic><topic>Parathyroid Glands - pathology</topic><topic>Pedigree</topic><topic>phenotypes</topic><topic>Pituitary Neoplasms - genetics</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>type 1</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BRANDI, M. L</creatorcontrib><creatorcontrib>WEBER, G</creatorcontrib><creatorcontrib>SVENSSON, A</creatorcontrib><creatorcontrib>FALCHETTI, A</creatorcontrib><creatorcontrib>TONELLI, F</creatorcontrib><creatorcontrib>CASTELLO, R</creatorcontrib><creatorcontrib>FURLANI, L</creatorcontrib><creatorcontrib>SCAPPATICCI, S</creatorcontrib><creatorcontrib>FRACCARO, M</creatorcontrib><creatorcontrib>LARSSON, C</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>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BRANDI, M. L</au><au>WEBER, G</au><au>SVENSSON, A</au><au>FALCHETTI, A</au><au>TONELLI, F</au><au>CASTELLO, R</au><au>FURLANI, L</au><au>SCAPPATICCI, S</au><au>FRACCARO, M</au><au>LARSSON, C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Homozygotes for the autosomal dominant neoplasia syndrome (MENI)</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1993-12-01</date><risdate>1993</risdate><volume>53</volume><issue>6</issue><spage>1167</spage><epage>1172</epage><pages>1167-1172</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Families in which both parents are heterozygotes for the same autosomal dominant neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity to evaluate three symptomatic siblings from the union between two unrelated individuals affected by multiple endocrine neoplasia type 1 (MEN1). When the three siblings and their parents and relatives were genotyped for 12 markers tightly linked to the MEN1 locus, at 11q13, two of the siblings were found to be homozygotes, and one a heterozygote, for MEN1. With regard to the MEN1 syndrome, no phenotypic differences were observed between the two homozygotes and the heterozygotes. However, the two homozygotes showed unexplained infertility, which was not the case for any of the heterozygotes. Thus, MEN1 appears to be a disease with complete dominance, and the presence of two MEN1 alleles with mutations of the type that occur constitutionally may be insufficient for tumor development.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>7902670</pmid><tpages>6</tpages></addata></record> |
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| subjects | Adrenal Cortex Neoplasms - genetics Adult Aged alleles BASIC BIOLOGICAL SCIENCES Biological and medical sciences CHROMOSOMES Chromosomes, Human, Pair 11 DISEASES ENDOCRINE DISEASES Endocrinopathies Female GENE MUTATIONS General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes Genes, Dominant GENETIC MAPPING Genetic Markers Genotype Haplotypes homozygosity Homozygote HUMAN CHROMOSOMES Humans Hypercalcemia - genetics Hyperparathyroidism - genetics Hyperparathyroidism - surgery Hyperplasia Infertility - genetics Karyotyping Male man MAPPING Medical sciences Middle Aged multiple endocrine neoplasia Multiple Endocrine Neoplasia - genetics mutation MUTATIONS 550400 -- Genetics NEOPLASMS Pancreatic Neoplasms - genetics Parathyroid Glands - pathology Pedigree phenotypes Pituitary Neoplasms - genetics Polymorphism, Restriction Fragment Length type 1 |
| title | Homozygotes for the autosomal dominant neoplasia syndrome (MENI) |
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