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A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D
Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by ERCC2 mutations. ERCC2 encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of ten subunits of the transcription factor TFIIH, pla...
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Published in: | Human genome variation 2020, Vol.7 (1), p.2-2, Article 2 |
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creator | Bui, Chi-Bao Duong, Thao Thi Phuong Tran, Vien The Pham, Thuy Thanh T. Vu, Tung Chau, Gia Cac Vo, Thanh-Niem Van Nguyen, Vinh Trinh, Dieu-Thuong Thi Hoang, Minh Van |
description | Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by
ERCC2
mutations.
ERCC2
encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of ten subunits of the transcription factor TFIIH, plays a critical role in the nucleotide-excision repair (NER) pathway. Mutations in XPD that affect the NER pathway can lead to neurological degeneration and skin cancer, which are the most common causes of death in XP patients. Here, we present detailed phenotypic information on a Vietnamese family in which four members were affected by XP with extreme sun sensitivity. Genomic analysis revealed a compound heterozygous mutation of
ERCC2
that affected family members and single heterozygous mutations in unaffected family members. We identified a novel, nonsense mutation in one allele of
ERCC2
(c.1354C > T, p.Q452X) and a known missense mutation in the other allele (c.2048G > A, p.R683Q). Fibroblasts isolated from the compound heterozygous subject also failed to recover from UV-driven DNA damage, thus recapitulating aspects of XP syndrome in vitro. We describe a novel
ERCC2
variant that leads to the breakdown of the NER pathway across generations of a family presenting with severe XP.
Xeroderma pigmentosum: New mutation linked to sun-sensitivity disorder
A novel mutation in a gene responsible for repairing DNA helps explain why members of one Vietnamese family suffer from heightened sensitivity to ultraviolet rays from sunlight. A team led by Minh Van Hoang from the University Medical Center, Ho Chi Minh City, Vietnam, sequenced the protein-coding portions of the genomes from one brother and two sisters affected by xeroderma pigmentosum, an inherited disorder characterized by extreme sun sensitivity in the skin and eyes. The researchers found that all three siblings carried two different mutations, one in each copy of a DNA-repair gene called
ERCC2
. One mutation had previously been implicated in many cases of xeroderma pigmentosum, but the other had never been reported before. These findings could aid in the diagnosis, prevention and treatment of this rare hereditary condition. |
doi_str_mv | 10.1038/s41439-020-0089-z |
format | article |
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ERCC2
mutations.
ERCC2
encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of ten subunits of the transcription factor TFIIH, plays a critical role in the nucleotide-excision repair (NER) pathway. Mutations in XPD that affect the NER pathway can lead to neurological degeneration and skin cancer, which are the most common causes of death in XP patients. Here, we present detailed phenotypic information on a Vietnamese family in which four members were affected by XP with extreme sun sensitivity. Genomic analysis revealed a compound heterozygous mutation of
ERCC2
that affected family members and single heterozygous mutations in unaffected family members. We identified a novel, nonsense mutation in one allele of
ERCC2
(c.1354C > T, p.Q452X) and a known missense mutation in the other allele (c.2048G > A, p.R683Q). Fibroblasts isolated from the compound heterozygous subject also failed to recover from UV-driven DNA damage, thus recapitulating aspects of XP syndrome in vitro. We describe a novel
ERCC2
variant that leads to the breakdown of the NER pathway across generations of a family presenting with severe XP.
Xeroderma pigmentosum: New mutation linked to sun-sensitivity disorder
A novel mutation in a gene responsible for repairing DNA helps explain why members of one Vietnamese family suffer from heightened sensitivity to ultraviolet rays from sunlight. A team led by Minh Van Hoang from the University Medical Center, Ho Chi Minh City, Vietnam, sequenced the protein-coding portions of the genomes from one brother and two sisters affected by xeroderma pigmentosum, an inherited disorder characterized by extreme sun sensitivity in the skin and eyes. The researchers found that all three siblings carried two different mutations, one in each copy of a DNA-repair gene called
ERCC2
. One mutation had previously been implicated in many cases of xeroderma pigmentosum, but the other had never been reported before. These findings could aid in the diagnosis, prevention and treatment of this rare hereditary condition.</description><identifier>ISSN: 2054-345X</identifier><identifier>EISSN: 2054-345X</identifier><identifier>DOI: 10.1038/s41439-020-0089-z</identifier><identifier>PMID: 32047639</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/208/727/2000 ; 692/308/2056 ; Biomedical and Life Sciences ; Biomedicine ; Deoxyribonucleic acid ; DNA ; DNA damage ; Gene Expression ; Gene Function ; Gene Therapy ; Genomes ; Human Genetics ; Molecular Medicine ; Mutation ; Patients ; Transcription factors</subject><ispartof>Human genome variation, 2020, Vol.7 (1), p.2-2, Article 2</ispartof><rights>The Author(s) 2020</rights><rights>The Author(s) 2020.</rights><rights>This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c522t-ce9914e9e13308bb18472f8989d3ec5cf09e177d46aed02e37d1e9549b00907b3</citedby><cites>FETCH-LOGICAL-c522t-ce9914e9e13308bb18472f8989d3ec5cf09e177d46aed02e37d1e9549b00907b3</cites><orcidid>0000-0002-3886-3210 ; 0000-0002-7937-1634</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2352618677/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2352618677?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,4024,25753,27923,27924,27925,37012,37013,44590,53791,53793,75126</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32047639$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bui, Chi-Bao</creatorcontrib><creatorcontrib>Duong, Thao Thi Phuong</creatorcontrib><creatorcontrib>Tran, Vien The</creatorcontrib><creatorcontrib>Pham, Thuy Thanh T.</creatorcontrib><creatorcontrib>Vu, Tung</creatorcontrib><creatorcontrib>Chau, Gia Cac</creatorcontrib><creatorcontrib>Vo, Thanh-Niem Van</creatorcontrib><creatorcontrib>Nguyen, Vinh</creatorcontrib><creatorcontrib>Trinh, Dieu-Thuong Thi</creatorcontrib><creatorcontrib>Hoang, Minh Van</creatorcontrib><title>A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D</title><title>Human genome variation</title><addtitle>Hum Genome Var</addtitle><addtitle>Hum Genome Var</addtitle><description>Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by
ERCC2
mutations.
ERCC2
encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of ten subunits of the transcription factor TFIIH, plays a critical role in the nucleotide-excision repair (NER) pathway. Mutations in XPD that affect the NER pathway can lead to neurological degeneration and skin cancer, which are the most common causes of death in XP patients. Here, we present detailed phenotypic information on a Vietnamese family in which four members were affected by XP with extreme sun sensitivity. Genomic analysis revealed a compound heterozygous mutation of
ERCC2
that affected family members and single heterozygous mutations in unaffected family members. We identified a novel, nonsense mutation in one allele of
ERCC2
(c.1354C > T, p.Q452X) and a known missense mutation in the other allele (c.2048G > A, p.R683Q). Fibroblasts isolated from the compound heterozygous subject also failed to recover from UV-driven DNA damage, thus recapitulating aspects of XP syndrome in vitro. We describe a novel
ERCC2
variant that leads to the breakdown of the NER pathway across generations of a family presenting with severe XP.
Xeroderma pigmentosum: New mutation linked to sun-sensitivity disorder
A novel mutation in a gene responsible for repairing DNA helps explain why members of one Vietnamese family suffer from heightened sensitivity to ultraviolet rays from sunlight. A team led by Minh Van Hoang from the University Medical Center, Ho Chi Minh City, Vietnam, sequenced the protein-coding portions of the genomes from one brother and two sisters affected by xeroderma pigmentosum, an inherited disorder characterized by extreme sun sensitivity in the skin and eyes. The researchers found that all three siblings carried two different mutations, one in each copy of a DNA-repair gene called
ERCC2
. One mutation had previously been implicated in many cases of xeroderma pigmentosum, but the other had never been reported before. These findings could aid in the diagnosis, prevention and treatment of this rare hereditary condition.</description><subject>631/208/727/2000</subject><subject>692/308/2056</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA damage</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genomes</subject><subject>Human Genetics</subject><subject>Molecular Medicine</subject><subject>Mutation</subject><subject>Patients</subject><subject>Transcription factors</subject><issn>2054-345X</issn><issn>2054-345X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><recordid>eNp9kdtqFTEUhgex2NL2AbyRgDfejF05TSY3QtmtBygIouJdyMys2U2ZJNtkprr79KbstlZBISSB9a1_Hf6qek7hNQXenmRBBdc1MKgBWl3fPKkOGEhRcyG_PX3036-Oc74CACq1aCl_Vu1zBkI1XB9UeEpCvMap3CFjOcQvs51dDCSO5PzTasWIC8SSrw7nYD0WYrTeTVvyw82X5CemOGDylmzc2mOYY148ydswpOiRrFNcNuTsqNob7ZTx-O49rL68Pf-8el9ffHz3YXV6UfeSsbnuUWsqUCPlHNquo61QbGx1qweOvexHKCGlBtFYHIAhVwNFLYXuADSojh9Wb3a6m6XzOPSln2Qns0nO27Q10TrzZyS4S7OO10aVFVIqi8CrO4EUvy-YZ-Nd7nGabMC4ZMO4FLQBrnlBX_6FXsUlhTKeYWW5THJeDPofxSVraNsoVSi6o_oUc044PrRMwdy6bXZum-K2uXXb3JScF49nfci497YAbAfkEgprTL9L_1v1F82AtT4</recordid><startdate>2020</startdate><enddate>2020</enddate><creator>Bui, Chi-Bao</creator><creator>Duong, Thao Thi Phuong</creator><creator>Tran, Vien The</creator><creator>Pham, Thuy Thanh T.</creator><creator>Vu, Tung</creator><creator>Chau, Gia Cac</creator><creator>Vo, Thanh-Niem Van</creator><creator>Nguyen, Vinh</creator><creator>Trinh, Dieu-Thuong Thi</creator><creator>Hoang, Minh Van</creator><general>Nature Publishing Group UK</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T3</scope><scope>7X7</scope><scope>7XB</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-3886-3210</orcidid><orcidid>https://orcid.org/0000-0002-7937-1634</orcidid></search><sort><creationdate>2020</creationdate><title>A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D</title><author>Bui, Chi-Bao ; Duong, Thao Thi Phuong ; Tran, Vien The ; Pham, Thuy Thanh T. ; Vu, Tung ; Chau, Gia Cac ; Vo, Thanh-Niem Van ; Nguyen, Vinh ; Trinh, Dieu-Thuong Thi ; Hoang, Minh Van</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c522t-ce9914e9e13308bb18472f8989d3ec5cf09e177d46aed02e37d1e9549b00907b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>631/208/727/2000</topic><topic>692/308/2056</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA damage</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genomes</topic><topic>Human Genetics</topic><topic>Molecular Medicine</topic><topic>Mutation</topic><topic>Patients</topic><topic>Transcription factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bui, Chi-Bao</creatorcontrib><creatorcontrib>Duong, Thao Thi Phuong</creatorcontrib><creatorcontrib>Tran, Vien The</creatorcontrib><creatorcontrib>Pham, Thuy Thanh T.</creatorcontrib><creatorcontrib>Vu, Tung</creatorcontrib><creatorcontrib>Chau, Gia Cac</creatorcontrib><creatorcontrib>Vo, Thanh-Niem Van</creatorcontrib><creatorcontrib>Nguyen, Vinh</creatorcontrib><creatorcontrib>Trinh, Dieu-Thuong Thi</creatorcontrib><creatorcontrib>Hoang, Minh Van</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Human Genome Abstracts</collection><collection>ProQuest Health and Medical</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human genome variation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bui, Chi-Bao</au><au>Duong, Thao Thi Phuong</au><au>Tran, Vien The</au><au>Pham, Thuy Thanh T.</au><au>Vu, Tung</au><au>Chau, Gia Cac</au><au>Vo, Thanh-Niem Van</au><au>Nguyen, Vinh</au><au>Trinh, Dieu-Thuong Thi</au><au>Hoang, Minh Van</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D</atitle><jtitle>Human genome variation</jtitle><stitle>Hum Genome Var</stitle><addtitle>Hum Genome Var</addtitle><date>2020</date><risdate>2020</risdate><volume>7</volume><issue>1</issue><spage>2</spage><epage>2</epage><pages>2-2</pages><artnum>2</artnum><issn>2054-345X</issn><eissn>2054-345X</eissn><abstract>Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by
ERCC2
mutations.
ERCC2
encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of ten subunits of the transcription factor TFIIH, plays a critical role in the nucleotide-excision repair (NER) pathway. Mutations in XPD that affect the NER pathway can lead to neurological degeneration and skin cancer, which are the most common causes of death in XP patients. Here, we present detailed phenotypic information on a Vietnamese family in which four members were affected by XP with extreme sun sensitivity. Genomic analysis revealed a compound heterozygous mutation of
ERCC2
that affected family members and single heterozygous mutations in unaffected family members. We identified a novel, nonsense mutation in one allele of
ERCC2
(c.1354C > T, p.Q452X) and a known missense mutation in the other allele (c.2048G > A, p.R683Q). Fibroblasts isolated from the compound heterozygous subject also failed to recover from UV-driven DNA damage, thus recapitulating aspects of XP syndrome in vitro. We describe a novel
ERCC2
variant that leads to the breakdown of the NER pathway across generations of a family presenting with severe XP.
Xeroderma pigmentosum: New mutation linked to sun-sensitivity disorder
A novel mutation in a gene responsible for repairing DNA helps explain why members of one Vietnamese family suffer from heightened sensitivity to ultraviolet rays from sunlight. A team led by Minh Van Hoang from the University Medical Center, Ho Chi Minh City, Vietnam, sequenced the protein-coding portions of the genomes from one brother and two sisters affected by xeroderma pigmentosum, an inherited disorder characterized by extreme sun sensitivity in the skin and eyes. The researchers found that all three siblings carried two different mutations, one in each copy of a DNA-repair gene called
ERCC2
. One mutation had previously been implicated in many cases of xeroderma pigmentosum, but the other had never been reported before. These findings could aid in the diagnosis, prevention and treatment of this rare hereditary condition.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>32047639</pmid><doi>10.1038/s41439-020-0089-z</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0002-3886-3210</orcidid><orcidid>https://orcid.org/0000-0002-7937-1634</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | 631/208/727/2000 692/308/2056 Biomedical and Life Sciences Biomedicine Deoxyribonucleic acid DNA DNA damage Gene Expression Gene Function Gene Therapy Genomes Human Genetics Molecular Medicine Mutation Patients Transcription factors |
title | A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D |
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