Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study
Tuberous sclerosis complex (TSC) is caused by a mutation in the TSC1 or TSC2 genes. However, 15% of patients have no mutation identified. Tubers and subependymal nodules (SENs) are the typical brain lesions in TSC and are present in 90–95% of patients. The objective of this study is to characterize...
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| Veröffentlicht in: | Clinical genetics 2014-08, Vol.86 (2), p.149-154 |
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| creator | Boronat, S. Shaaya, E.A. Doherty, C.M. Caruso, P. Thiele, E.A. |
| description | Tuberous sclerosis complex (TSC) is caused by a mutation in the TSC1 or TSC2 genes. However, 15% of patients have no mutation identified. Tubers and subependymal nodules (SENs) are the typical brain lesions in TSC and are present in 90–95% of patients. The objective of this study is to characterize the specific genotype–phenotype of patients without these lesions. We analyzed the features of 11 patients without typical TSC neuroanatomic features. Ten had TSC1/TSC2 mutational analysis, which was negative. Clinically they had lesions thought to be of neural crest (NC) origin, such as hypomelanotic macules, facial angiofibromas, cardiac rhabdomyomas, angiomyolipomas, and lymphangioleiomyomatosis. We hypothesize that patients without tubers and SENs reflect mosaicism caused by a mutation in TSC1 or TSC2 in a NC cell during embryonic development. This may explain the negative results in TSC1 and TSC2 testing in DNA from peripheral leukocytes. |
| doi_str_mv | 10.1111/cge.12245 |
| format | Article |
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However, 15% of patients have no mutation identified. Tubers and subependymal nodules (SENs) are the typical brain lesions in TSC and are present in 90–95% of patients. The objective of this study is to characterize the specific genotype–phenotype of patients without these lesions. We analyzed the features of 11 patients without typical TSC neuroanatomic features. Ten had TSC1/TSC2 mutational analysis, which was negative. Clinically they had lesions thought to be of neural crest (NC) origin, such as hypomelanotic macules, facial angiofibromas, cardiac rhabdomyomas, angiomyolipomas, and lymphangioleiomyomatosis. We hypothesize that patients without tubers and SENs reflect mosaicism caused by a mutation in TSC1 or TSC2 in a NC cell during embryonic development. This may explain the negative results in TSC1 and TSC2 testing in DNA from peripheral leukocytes.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/cge.12245</identifier><identifier>PMID: 23909698</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Brain - pathology ; Child ; Child, Preschool ; Female ; Genetic Association Studies ; Genetic disorders ; Genotype & phenotype ; Humans ; Infant ; Male ; Medical research ; Middle Aged ; mosaicism ; Mutation ; neural crest ; no mutation identified (NMI) ; Tuberous Sclerosis - genetics ; tuberous sclerosis complex (TSC) ; Young Adult</subject><ispartof>Clinical genetics, 2014-08, Vol.86 (2), p.149-154</ispartof><rights>2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2013 John Wiley & Sons A/S. 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However, 15% of patients have no mutation identified. Tubers and subependymal nodules (SENs) are the typical brain lesions in TSC and are present in 90–95% of patients. The objective of this study is to characterize the specific genotype–phenotype of patients without these lesions. We analyzed the features of 11 patients without typical TSC neuroanatomic features. Ten had TSC1/TSC2 mutational analysis, which was negative. Clinically they had lesions thought to be of neural crest (NC) origin, such as hypomelanotic macules, facial angiofibromas, cardiac rhabdomyomas, angiomyolipomas, and lymphangioleiomyomatosis. We hypothesize that patients without tubers and SENs reflect mosaicism caused by a mutation in TSC1 or TSC2 in a NC cell during embryonic development. This may explain the negative results in TSC1 and TSC2 testing in DNA from peripheral leukocytes.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Brain - pathology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>Genetic disorders</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical research</subject><subject>Middle Aged</subject><subject>mosaicism</subject><subject>Mutation</subject><subject>neural crest</subject><subject>no mutation identified (NMI)</subject><subject>Tuberous Sclerosis - genetics</subject><subject>tuberous sclerosis complex (TSC)</subject><subject>Young Adult</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1P3DAQhq0KVLa0h_6ByhIXOAT8Gce9wUIXJEQloOqtlmNPIDRfxImW_Pt6uwsHJCTmMu9Iz7zSzIvQV0oOaawjdweHlDEhP6AZ5VonhBCxhWax6UTTlO-gTyE8xJErqT-iHcY10anOZujP7ZhD344BB1dFEcqAXVt3FTzhZTnct-OAhxUSsG08DlF20PipthVuWj9WEL5ji7t7aNph6iC52wgchtFPn9F2YasAXzZ9F_36cXY7P08ufy4u5seXiRNayCTV2lvGM17kWeY8U95SV5DCWsF4DkJkJKdEKUuVVo6A5IWVhWAsFdRTafku2l_7dn37OEIYTF0GB1VlG4jHGSql0JJwrt-BCiWpFukK3XuFPrRj38RDVlRKlSSKRepgTbn4vtBDYbq-rG0_GUrMKh8T8zH_84nst43jmNfgX8jnQCJwtAaWZQXT205mvjh7tkzWG2UY4Ollw_Z_Tapi3ub31cKczk_O5fWNNJT_A7gBqKA</recordid><startdate>201408</startdate><enddate>201408</enddate><creator>Boronat, S.</creator><creator>Shaaya, E.A.</creator><creator>Doherty, C.M.</creator><creator>Caruso, P.</creator><creator>Thiele, E.A.</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201408</creationdate><title>Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study</title><author>Boronat, S. ; Shaaya, E.A. ; Doherty, C.M. ; Caruso, P. ; Thiele, E.A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4945-699da2383fb88cd27da1cf0faa423be4480b1077a1797c0e53fa5f422641d15a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Brain - pathology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Genetic Association Studies</topic><topic>Genetic disorders</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical research</topic><topic>Middle Aged</topic><topic>mosaicism</topic><topic>Mutation</topic><topic>neural crest</topic><topic>no mutation identified (NMI)</topic><topic>Tuberous Sclerosis - genetics</topic><topic>tuberous sclerosis complex (TSC)</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Boronat, S.</creatorcontrib><creatorcontrib>Shaaya, E.A.</creatorcontrib><creatorcontrib>Doherty, C.M.</creatorcontrib><creatorcontrib>Caruso, P.</creatorcontrib><creatorcontrib>Thiele, E.A.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Boronat, S.</au><au>Shaaya, E.A.</au><au>Doherty, C.M.</au><au>Caruso, P.</au><au>Thiele, E.A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2014-08</date><risdate>2014</risdate><volume>86</volume><issue>2</issue><spage>149</spage><epage>154</epage><pages>149-154</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><abstract>Tuberous sclerosis complex (TSC) is caused by a mutation in the TSC1 or TSC2 genes. However, 15% of patients have no mutation identified. Tubers and subependymal nodules (SENs) are the typical brain lesions in TSC and are present in 90–95% of patients. The objective of this study is to characterize the specific genotype–phenotype of patients without these lesions. We analyzed the features of 11 patients without typical TSC neuroanatomic features. Ten had TSC1/TSC2 mutational analysis, which was negative. Clinically they had lesions thought to be of neural crest (NC) origin, such as hypomelanotic macules, facial angiofibromas, cardiac rhabdomyomas, angiomyolipomas, and lymphangioleiomyomatosis. We hypothesize that patients without tubers and SENs reflect mosaicism caused by a mutation in TSC1 or TSC2 in a NC cell during embryonic development. This may explain the negative results in TSC1 and TSC2 testing in DNA from peripheral leukocytes.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>23909698</pmid><doi>10.1111/cge.12245</doi><tpages>6</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Brain - pathology Child Child, Preschool Female Genetic Association Studies Genetic disorders Genotype & phenotype Humans Infant Male Medical research Middle Aged mosaicism Mutation neural crest no mutation identified (NMI) Tuberous Sclerosis - genetics tuberous sclerosis complex (TSC) Young Adult |
| title | Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study |
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