An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation
Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (
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| Veröffentlicht in: | American journal of human genetics 2007-01, Vol.80 (1), p.140-151 |
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| creator | Upadhyaya, M. Huson, S.M. Davies, M. Thomas, N. Chuzhanova, N. Giovannini, S. Evans, D.G. Howard, E. Kerr, B. Griffiths, S. Consoli, C. Side, L. Adams, D. Pierpont, M. Hachen, R. Barnicoat, A. Li, H. Wallace, P. Van Biervliet, J.P. Stevenson, D. Viskochil, D. Baralle, D. Haan, E. Riccardi, V. Turnpenny, P. Lazaro, C. Messiaen, L. |
| description | Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations ( |
| doi_str_mv | 10.1086/510781 |
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NF1 gene and a specific phenotype have previously been demonstrated, which suggests that interaction with either unlinked modifying genes and/or the normal
NF1 allele may be involved in the development of the particular clinical features associated with NF1. We identified 21 unrelated probands with NF1 (14 familial and 7 sporadic cases) who were all found to have the same c.2970-2972 delAAT (p.990delM) mutation but no cutaneous neurofibromas or clinically obvious plexiform neurofibromas. Molecular analysis identified the same 3-bp inframe deletion (c.2970-2972 delAAT) in exon 17 of the
NF1 gene in all affected subjects. The ΔAAT mutation is predicted to result in the loss of one of two adjacent methionines (codon 991 or 992) (ΔMet991), in conjunction with silent ACA→ACG change of codon 990. These two methionine residues are located in a highly conserved region of neurofibromin and are expected, therefore, to have a functional role in the protein. Our data represent results from the first study to correlate a specific small mutation of the
NF1 gene to the expression of a particular clinical phenotype. The biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/510781</identifier><identifier>PMID: 17160901</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Child ; Exons ; Female ; Fundamental and applied biological sciences. Psychology ; Gene expression ; General aspects. Genetic counseling ; Genetics of eukaryotes. Biological and molecular evolution ; Genotype ; Genotype & phenotype ; Humans ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Molecular and cellular biology ; Mutation ; Neurofibroma - genetics ; Neurofibromatosis 1 - genetics ; Neurofibromin 1 - genetics ; Neurology ; Pedigree ; Phenotype ; Sequence Analysis, DNA ; Sequence Deletion ; Skin Neoplasms - genetics ; Studies ; Tumors of the nervous system. Phacomatoses</subject><ispartof>American journal of human genetics, 2007-01, Vol.80 (1), p.140-151</ispartof><rights>2007 The American Society of Human Genetics</rights><rights>2007 INIST-CNRS</rights><rights>Copyright University of Chicago, acting through its Press Jan 2007</rights><rights>2006 by The American Society of Human Genetics. All rights reserved. 2006</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c493t-c75ef6dd142c391eaad629329512df266d0b567dd62f0a3e7d5b900fa7590df3</citedby><cites>FETCH-LOGICAL-c493t-c75ef6dd142c391eaad629329512df266d0b567dd62f0a3e7d5b900fa7590df3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1785321/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0002929707609288$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,3537,27901,27902,53766,53768,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18380918$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17160901$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Upadhyaya, M.</creatorcontrib><creatorcontrib>Huson, S.M.</creatorcontrib><creatorcontrib>Davies, M.</creatorcontrib><creatorcontrib>Thomas, N.</creatorcontrib><creatorcontrib>Chuzhanova, N.</creatorcontrib><creatorcontrib>Giovannini, S.</creatorcontrib><creatorcontrib>Evans, D.G.</creatorcontrib><creatorcontrib>Howard, E.</creatorcontrib><creatorcontrib>Kerr, B.</creatorcontrib><creatorcontrib>Griffiths, S.</creatorcontrib><creatorcontrib>Consoli, C.</creatorcontrib><creatorcontrib>Side, L.</creatorcontrib><creatorcontrib>Adams, D.</creatorcontrib><creatorcontrib>Pierpont, M.</creatorcontrib><creatorcontrib>Hachen, R.</creatorcontrib><creatorcontrib>Barnicoat, A.</creatorcontrib><creatorcontrib>Li, H.</creatorcontrib><creatorcontrib>Wallace, P.</creatorcontrib><creatorcontrib>Van Biervliet, J.P.</creatorcontrib><creatorcontrib>Stevenson, D.</creatorcontrib><creatorcontrib>Viskochil, D.</creatorcontrib><creatorcontrib>Baralle, D.</creatorcontrib><creatorcontrib>Haan, E.</creatorcontrib><creatorcontrib>Riccardi, V.</creatorcontrib><creatorcontrib>Turnpenny, P.</creatorcontrib><creatorcontrib>Lazaro, C.</creatorcontrib><creatorcontrib>Messiaen, L.</creatorcontrib><title>An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (<20 bp) of the
NF1 gene and a specific phenotype have previously been demonstrated, which suggests that interaction with either unlinked modifying genes and/or the normal
NF1 allele may be involved in the development of the particular clinical features associated with NF1. We identified 21 unrelated probands with NF1 (14 familial and 7 sporadic cases) who were all found to have the same c.2970-2972 delAAT (p.990delM) mutation but no cutaneous neurofibromas or clinically obvious plexiform neurofibromas. Molecular analysis identified the same 3-bp inframe deletion (c.2970-2972 delAAT) in exon 17 of the
NF1 gene in all affected subjects. The ΔAAT mutation is predicted to result in the loss of one of two adjacent methionines (codon 991 or 992) (ΔMet991), in conjunction with silent ACA→ACG change of codon 990. These two methionine residues are located in a highly conserved region of neurofibromin and are expected, therefore, to have a functional role in the protein. Our data represent results from the first study to correlate a specific small mutation of the
NF1 gene to the expression of a particular clinical phenotype. The biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Exons</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene expression</subject><subject>General aspects. Genetic counseling</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Mutation</subject><subject>Neurofibroma - genetics</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>Neurofibromin 1 - genetics</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Sequence Analysis, DNA</subject><subject>Sequence Deletion</subject><subject>Skin Neoplasms - genetics</subject><subject>Studies</subject><subject>Tumors of the nervous system. 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Psychology</topic><topic>Gene expression</topic><topic>General aspects. Genetic counseling</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular and cellular biology</topic><topic>Mutation</topic><topic>Neurofibroma - genetics</topic><topic>Neurofibromatosis 1 - genetics</topic><topic>Neurofibromin 1 - genetics</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Sequence Analysis, DNA</topic><topic>Sequence Deletion</topic><topic>Skin Neoplasms - genetics</topic><topic>Studies</topic><topic>Tumors of the nervous system. Phacomatoses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Upadhyaya, M.</creatorcontrib><creatorcontrib>Huson, S.M.</creatorcontrib><creatorcontrib>Davies, M.</creatorcontrib><creatorcontrib>Thomas, N.</creatorcontrib><creatorcontrib>Chuzhanova, N.</creatorcontrib><creatorcontrib>Giovannini, S.</creatorcontrib><creatorcontrib>Evans, D.G.</creatorcontrib><creatorcontrib>Howard, E.</creatorcontrib><creatorcontrib>Kerr, B.</creatorcontrib><creatorcontrib>Griffiths, S.</creatorcontrib><creatorcontrib>Consoli, C.</creatorcontrib><creatorcontrib>Side, L.</creatorcontrib><creatorcontrib>Adams, D.</creatorcontrib><creatorcontrib>Pierpont, M.</creatorcontrib><creatorcontrib>Hachen, R.</creatorcontrib><creatorcontrib>Barnicoat, A.</creatorcontrib><creatorcontrib>Li, H.</creatorcontrib><creatorcontrib>Wallace, P.</creatorcontrib><creatorcontrib>Van Biervliet, J.P.</creatorcontrib><creatorcontrib>Stevenson, D.</creatorcontrib><creatorcontrib>Viskochil, D.</creatorcontrib><creatorcontrib>Baralle, D.</creatorcontrib><creatorcontrib>Haan, E.</creatorcontrib><creatorcontrib>Riccardi, V.</creatorcontrib><creatorcontrib>Turnpenny, P.</creatorcontrib><creatorcontrib>Lazaro, C.</creatorcontrib><creatorcontrib>Messiaen, L.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</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>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</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>Upadhyaya, M.</au><au>Huson, S.M.</au><au>Davies, M.</au><au>Thomas, N.</au><au>Chuzhanova, N.</au><au>Giovannini, S.</au><au>Evans, D.G.</au><au>Howard, E.</au><au>Kerr, B.</au><au>Griffiths, S.</au><au>Consoli, C.</au><au>Side, L.</au><au>Adams, D.</au><au>Pierpont, M.</au><au>Hachen, R.</au><au>Barnicoat, A.</au><au>Li, H.</au><au>Wallace, P.</au><au>Van Biervliet, J.P.</au><au>Stevenson, D.</au><au>Viskochil, D.</au><au>Baralle, D.</au><au>Haan, E.</au><au>Riccardi, V.</au><au>Turnpenny, P.</au><au>Lazaro, C.</au><au>Messiaen, L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2007-01-01</date><risdate>2007</risdate><volume>80</volume><issue>1</issue><spage>140</spage><epage>151</epage><pages>140-151</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (<20 bp) of the
NF1 gene and a specific phenotype have previously been demonstrated, which suggests that interaction with either unlinked modifying genes and/or the normal
NF1 allele may be involved in the development of the particular clinical features associated with NF1. We identified 21 unrelated probands with NF1 (14 familial and 7 sporadic cases) who were all found to have the same c.2970-2972 delAAT (p.990delM) mutation but no cutaneous neurofibromas or clinically obvious plexiform neurofibromas. Molecular analysis identified the same 3-bp inframe deletion (c.2970-2972 delAAT) in exon 17 of the
NF1 gene in all affected subjects. The ΔAAT mutation is predicted to result in the loss of one of two adjacent methionines (codon 991 or 992) (ΔMet991), in conjunction with silent ACA→ACG change of codon 990. These two methionine residues are located in a highly conserved region of neurofibromin and are expected, therefore, to have a functional role in the protein. Our data represent results from the first study to correlate a specific small mutation of the
NF1 gene to the expression of a particular clinical phenotype. The biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>17160901</pmid><doi>10.1086/510781</doi><tpages>12</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete; Open Access: Cell Press Free Archives; Free E-Journal (出版社公開部分のみ）; PubMed Central |
| subjects | Adolescent Adult Biological and medical sciences Child Exons Female Fundamental and applied biological sciences. Psychology Gene expression General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Genotype Genotype & phenotype Humans Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Mutation Neurofibroma - genetics Neurofibromatosis 1 - genetics Neurofibromin 1 - genetics Neurology Pedigree Phenotype Sequence Analysis, DNA Sequence Deletion Skin Neoplasms - genetics Studies Tumors of the nervous system. Phacomatoses |
| title | An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation |
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