Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome
FBXW7 (F-box and WD-repeat domain-containing 7) is a tumor suppressor gene, and its germline variants have been causally linked to Wilms tumors. Furthermore, germline variants of FBXW7 have also been implicated in a neurodevelopmental syndrome. However, little is known regarding the occurrence of Wi...
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| Veröffentlicht in: | Journal of human genetics 2024-10, Vol.70 (2), p.121-123 |
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| creator | Saito, Yoko Keino, Dai Kuroda, Yukiko Enomoto, Yumi Naruto, Takuya Tanaka, Yukichi Tanaka, Mio Usui, Hidehito Kitagawa, Norihiko Yanagimachi, Masakatsu Kurosawa, Kenji |
| description | FBXW7
(F-box and WD-repeat domain-containing 7) is a tumor suppressor gene, and its germline variants have been causally linked to Wilms tumors. Furthermore, germline variants of
FBXW7
have also been implicated in a neurodevelopmental syndrome. However, little is known regarding the occurrence of Wilms tumor in patients with
FBXW7
-related neurodevelopmental syndrome. We identified a novel constitutional pathogenic variant of
FBXW7
in a patient with intellectual disability, who also developed Wilms tumor. The variant was derived from his apparently normal mother, and was also detected in his sister who exhibited developmental delay. Furthermore, we detected a somatic nonsense variant on the paternal allele of
FBXW7
in the tumor DNA. These results suggest that the development of Wilms tumor along with
FBXW7
-related neurodevelopmental syndrome follows the two-hit model, which needs to be validated to establish appropriate follow-up management and tumor surveillance. |
| doi_str_mv | 10.1038/s10038-024-01299-6 |
| format | Article |
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(F-box and WD-repeat domain-containing 7) is a tumor suppressor gene, and its germline variants have been causally linked to Wilms tumors. Furthermore, germline variants of
FBXW7
have also been implicated in a neurodevelopmental syndrome. However, little is known regarding the occurrence of Wilms tumor in patients with
FBXW7
-related neurodevelopmental syndrome. We identified a novel constitutional pathogenic variant of
FBXW7
in a patient with intellectual disability, who also developed Wilms tumor. The variant was derived from his apparently normal mother, and was also detected in his sister who exhibited developmental delay. Furthermore, we detected a somatic nonsense variant on the paternal allele of
FBXW7
in the tumor DNA. These results suggest that the development of Wilms tumor along with
FBXW7
-related neurodevelopmental syndrome follows the two-hit model, which needs to be validated to establish appropriate follow-up management and tumor surveillance.</description><identifier>ISSN: 1434-5161</identifier><identifier>ISSN: 1435-232X</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/s10038-024-01299-6</identifier><identifier>PMID: 39414990</identifier><language>eng</language><publisher>Singapore: Springer Nature Singapore</publisher><subject>38/61 ; 45/23 ; 45/77 ; 631/67/68 ; 692/308/2056 ; Biomedical and Life Sciences ; Biomedicine ; Brief Communication ; Cdc4 protein ; Child, Preschool ; F-Box-WD Repeat-Containing Protein 7 - genetics ; Female ; Gene Expression ; Gene Function ; Gene Therapy ; Germ-Line Mutation ; Human Genetics ; Humans ; Infant ; Intellectual disabilities ; Intellectual Disability - genetics ; Intellectual Disability - pathology ; Kidney Neoplasms - genetics ; Kidney Neoplasms - pathology ; Male ; Molecular Medicine ; Mutation ; Neurodevelopmental disorders ; Neurodevelopmental Disorders - genetics ; Neurodevelopmental Disorders - pathology ; Pedigree ; Tumor suppressor genes ; Tumors ; Wilms Tumor - genetics ; Wilms Tumor - pathology</subject><ispartof>Journal of human genetics, 2024-10, Vol.70 (2), p.121-123</ispartof><rights>The Author(s), under exclusive licence to The Japan Society of Human Genetics 2024</rights><rights>2024. The Author(s), under exclusive licence to The Japan Society of Human Genetics.</rights><rights>Copyright Nature Publishing Group Feb 2025</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c256t-4a0e69da0a8fd9772eba0b3c46d812b399e2011bfc8f3ca93798e12418556b1e3</cites><orcidid>0000-0002-5590-8126 ; 0000-0002-6817-7748 ; 0009-0004-2975-8656</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/s10038-024-01299-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/s10038-024-01299-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39414990$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Saito, Yoko</creatorcontrib><creatorcontrib>Keino, Dai</creatorcontrib><creatorcontrib>Kuroda, Yukiko</creatorcontrib><creatorcontrib>Enomoto, Yumi</creatorcontrib><creatorcontrib>Naruto, Takuya</creatorcontrib><creatorcontrib>Tanaka, Yukichi</creatorcontrib><creatorcontrib>Tanaka, Mio</creatorcontrib><creatorcontrib>Usui, Hidehito</creatorcontrib><creatorcontrib>Kitagawa, Norihiko</creatorcontrib><creatorcontrib>Yanagimachi, Masakatsu</creatorcontrib><creatorcontrib>Kurosawa, Kenji</creatorcontrib><title>Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><addtitle>J Hum Genet</addtitle><description>FBXW7
(F-box and WD-repeat domain-containing 7) is a tumor suppressor gene, and its germline variants have been causally linked to Wilms tumors. Furthermore, germline variants of
FBXW7
have also been implicated in a neurodevelopmental syndrome. However, little is known regarding the occurrence of Wilms tumor in patients with
FBXW7
-related neurodevelopmental syndrome. We identified a novel constitutional pathogenic variant of
FBXW7
in a patient with intellectual disability, who also developed Wilms tumor. The variant was derived from his apparently normal mother, and was also detected in his sister who exhibited developmental delay. Furthermore, we detected a somatic nonsense variant on the paternal allele of
FBXW7
in the tumor DNA. These results suggest that the development of Wilms tumor along with
FBXW7
-related neurodevelopmental syndrome follows the two-hit model, which needs to be validated to establish appropriate follow-up management and tumor surveillance.</description><subject>38/61</subject><subject>45/23</subject><subject>45/77</subject><subject>631/67/68</subject><subject>692/308/2056</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Brief Communication</subject><subject>Cdc4 protein</subject><subject>Child, Preschool</subject><subject>F-Box-WD Repeat-Containing Protein 7 - genetics</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Germ-Line Mutation</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - pathology</subject><subject>Kidney Neoplasms - genetics</subject><subject>Kidney Neoplasms - pathology</subject><subject>Male</subject><subject>Molecular Medicine</subject><subject>Mutation</subject><subject>Neurodevelopmental disorders</subject><subject>Neurodevelopmental Disorders - genetics</subject><subject>Neurodevelopmental Disorders - pathology</subject><subject>Pedigree</subject><subject>Tumor suppressor genes</subject><subject>Tumors</subject><subject>Wilms Tumor - genetics</subject><subject>Wilms Tumor - pathology</subject><issn>1434-5161</issn><issn>1435-232X</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU1LHjEQx4O0qLV-gR5KoBcvaTPJvuWoom1B6MWit5DdzGpkN3maF8Vvb_SxLfTQy8zA_OY_w_wJ-QD8M3A5fEnAa2JcNIyDUIp1O2QfGtkyIcX1m5e6YS10sEfepXTHKy56sUv2pGqgUYrvk-nyIbBbl-lasskueDqZkjDRK7esieayhkidp8bXaN29s8Us9MHlW3p-cn3Vs4iLyWipxxKDxXtcwmZFnyuVHr2NYcX35O1sloSHr_mA_Dw_uzz9xi5-fP1-enzBJtF2mTWGY6es4WaYrep7gaPho5yazg4gRqkUCg4wztMwy8ko2asBQTQwtG03AsoDcrTV3cTwq2DKenVpwmUxHkNJWgL0HVRhWdFP_6B3oURfr6tUq3p4DpUSW2qKIaWIs95Et5r4qIHrZwv01gJdLdAvFuiuDn18lS7jivbPyO-fV0BugVRb_gbj393_kX0CNTaRwA</recordid><startdate>20241016</startdate><enddate>20241016</enddate><creator>Saito, Yoko</creator><creator>Keino, Dai</creator><creator>Kuroda, Yukiko</creator><creator>Enomoto, Yumi</creator><creator>Naruto, Takuya</creator><creator>Tanaka, Yukichi</creator><creator>Tanaka, Mio</creator><creator>Usui, Hidehito</creator><creator>Kitagawa, Norihiko</creator><creator>Yanagimachi, Masakatsu</creator><creator>Kurosawa, Kenji</creator><general>Springer Nature Singapore</general><general>Nature Publishing Group</general><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>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-5590-8126</orcidid><orcidid>https://orcid.org/0000-0002-6817-7748</orcidid><orcidid>https://orcid.org/0009-0004-2975-8656</orcidid></search><sort><creationdate>20241016</creationdate><title>Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome</title><author>Saito, Yoko ; Keino, Dai ; Kuroda, Yukiko ; Enomoto, Yumi ; Naruto, Takuya ; Tanaka, Yukichi ; Tanaka, Mio ; Usui, Hidehito ; Kitagawa, Norihiko ; Yanagimachi, Masakatsu ; Kurosawa, Kenji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c256t-4a0e69da0a8fd9772eba0b3c46d812b399e2011bfc8f3ca93798e12418556b1e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>38/61</topic><topic>45/23</topic><topic>45/77</topic><topic>631/67/68</topic><topic>692/308/2056</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Brief Communication</topic><topic>Cdc4 protein</topic><topic>Child, Preschool</topic><topic>F-Box-WD Repeat-Containing Protein 7 - genetics</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Germ-Line Mutation</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - pathology</topic><topic>Kidney Neoplasms - genetics</topic><topic>Kidney Neoplasms - pathology</topic><topic>Male</topic><topic>Molecular Medicine</topic><topic>Mutation</topic><topic>Neurodevelopmental disorders</topic><topic>Neurodevelopmental Disorders - genetics</topic><topic>Neurodevelopmental Disorders - pathology</topic><topic>Pedigree</topic><topic>Tumor suppressor genes</topic><topic>Tumors</topic><topic>Wilms Tumor - genetics</topic><topic>Wilms Tumor - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Saito, Yoko</creatorcontrib><creatorcontrib>Keino, Dai</creatorcontrib><creatorcontrib>Kuroda, Yukiko</creatorcontrib><creatorcontrib>Enomoto, Yumi</creatorcontrib><creatorcontrib>Naruto, Takuya</creatorcontrib><creatorcontrib>Tanaka, Yukichi</creatorcontrib><creatorcontrib>Tanaka, Mio</creatorcontrib><creatorcontrib>Usui, Hidehito</creatorcontrib><creatorcontrib>Kitagawa, Norihiko</creatorcontrib><creatorcontrib>Yanagimachi, Masakatsu</creatorcontrib><creatorcontrib>Kurosawa, Kenji</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Saito, Yoko</au><au>Keino, Dai</au><au>Kuroda, Yukiko</au><au>Enomoto, Yumi</au><au>Naruto, Takuya</au><au>Tanaka, Yukichi</au><au>Tanaka, Mio</au><au>Usui, Hidehito</au><au>Kitagawa, Norihiko</au><au>Yanagimachi, Masakatsu</au><au>Kurosawa, Kenji</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2024-10-16</date><risdate>2024</risdate><volume>70</volume><issue>2</issue><spage>121</spage><epage>123</epage><pages>121-123</pages><issn>1434-5161</issn><issn>1435-232X</issn><eissn>1435-232X</eissn><abstract>FBXW7
(F-box and WD-repeat domain-containing 7) is a tumor suppressor gene, and its germline variants have been causally linked to Wilms tumors. Furthermore, germline variants of
FBXW7
have also been implicated in a neurodevelopmental syndrome. However, little is known regarding the occurrence of Wilms tumor in patients with
FBXW7
-related neurodevelopmental syndrome. We identified a novel constitutional pathogenic variant of
FBXW7
in a patient with intellectual disability, who also developed Wilms tumor. The variant was derived from his apparently normal mother, and was also detected in his sister who exhibited developmental delay. Furthermore, we detected a somatic nonsense variant on the paternal allele of
FBXW7
in the tumor DNA. These results suggest that the development of Wilms tumor along with
FBXW7
-related neurodevelopmental syndrome follows the two-hit model, which needs to be validated to establish appropriate follow-up management and tumor surveillance.</abstract><cop>Singapore</cop><pub>Springer Nature Singapore</pub><pmid>39414990</pmid><doi>10.1038/s10038-024-01299-6</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0002-5590-8126</orcidid><orcidid>https://orcid.org/0000-0002-6817-7748</orcidid><orcidid>https://orcid.org/0009-0004-2975-8656</orcidid></addata></record> |
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| ispartof | Journal of human genetics, 2024-10, Vol.70 (2), p.121-123 |
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| subjects | 38/61 45/23 45/77 631/67/68 692/308/2056 Biomedical and Life Sciences Biomedicine Brief Communication Cdc4 protein Child, Preschool F-Box-WD Repeat-Containing Protein 7 - genetics Female Gene Expression Gene Function Gene Therapy Germ-Line Mutation Human Genetics Humans Infant Intellectual disabilities Intellectual Disability - genetics Intellectual Disability - pathology Kidney Neoplasms - genetics Kidney Neoplasms - pathology Male Molecular Medicine Mutation Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Neurodevelopmental Disorders - pathology Pedigree Tumor suppressor genes Tumors Wilms Tumor - genetics Wilms Tumor - pathology |
| title | Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome |
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