Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain
The COL4A1 gene encodes the α1‐chain of type IV collagen, which is ubiquitously expressed in basement membranes. Mutations in COL4A1 have been reported in autosomal‐dominant porencephaly and in patients with symptomatic small vessel brain disease, inconstantly associated with eye defects. We have pr...
Gespeichert in:
Veröffentlicht in: | American journal of medical genetics. Part A 2010-10, Vol.152A (10), p.2550-2555 |
---|---|
Hauptverfasser: | , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 2555 |
---|---|
container_issue | 10 |
container_start_page | 2550 |
container_title | American journal of medical genetics. Part A |
container_volume | 152A |
creator | Plaisier, Emmanuelle Chen, Zhiyong Gekeler, Florian Benhassine, Safa Dahan, Karine Marro, Béatrice Alamowitch, Sonia Paques, Michel Ronco, Pierre |
description | The COL4A1 gene encodes the α1‐chain of type IV collagen, which is ubiquitously expressed in basement membranes. Mutations in COL4A1 have been reported in autosomal‐dominant porencephaly and in patients with symptomatic small vessel brain disease, inconstantly associated with eye defects. We have previously reported three COL4A1 mutations associated with a systemic phenotype that we called HANAC (Hereditary Angiopathy, Nephropathy, Aneurysms, and Cramps). We carried out a clinical and genetic study of three families presenting with characteristic features of HANAC syndrome. Common systemic signs included arterial retinal tortuosity and muscle cramps, with a variable combination of small vessel brain disease, Raynaud phenomena, and kidney defects. Three novel COL4A1 missense substitutions are described, which affect highly conserved glycine residues within the collagenous domain of the protein. All six known mutations associated with the HANAC phenotype are localized within the CB3[IV] fragment of COL4A1, which encompasses major integrin‐binding sites. Our results confirm that HANAC syndrome is a distinct clinical entity within the COL4A1‐related disorders, which is characterized by systemic involvement and usually asymptomatic brain disease. The restricted distribution of COL4A1 mutations within the CB3[IV] region is a characteristic of the reports of patients with HANAC, which suggests that abnormal cell‐type IV collagen interactions may underlie the systemic defects observed in this syndrome. © 2010 Wiley‐Liss, Inc. |
doi_str_mv | 10.1002/ajmg.a.33659 |
format | Article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_879476681</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>755398775</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4349-2763ff21601c7a6228f4ef1de19c56d64efcb709d9530295412ce6aa9ac6caad3</originalsourceid><addsrcrecordid>eNqFkE1vEzEQhi0EoqVw44x8QVy6wR9re81tiUpaFFJUoBwQsqZeL3HZXQd7Q8m_xyVpuMFpZqTnfUd6EHpKyYQSwl7Cdf9tAhPOpdD30CEVghVlxfn9_c7EAXqU0jUhnAglH6IDRipaSckPkV2En67D0_N5WVPcr0cYfRgShpSC9TC6Bt_4cYlP60U9xWkzNDH07hWucQydw22IeFw6PEa_yufSdd5CrnvNv5xdfsVN6MEPj9GDFrrknuzmEfr05uTj9LSYn8_OpvW8sCUvdcGU5G3LqCTUKpCMVW3pWto4qq2QjcyHvVJEN1pwwrQoKbNOAmiw0gI0_Ai92PauYvixdmk0vU_WdR0MLqyTqZQulZQV_S-phOC6Ukpk8nhL2hhSiq41q-h7iBtDibn1b279GzB__Gf82a54fdW7Zg_fCc_A8x0AKZtqIwzWp78cZ4rTqswc33I3vnObfz419dt3s7v3xTbl0-h-7VMQvxupuBLm82Jm5vLi4v2l-pDTvwG0Rqu0</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>755398775</pqid></control><display><type>article</type><title>Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><creator>Plaisier, Emmanuelle ; Chen, Zhiyong ; Gekeler, Florian ; Benhassine, Safa ; Dahan, Karine ; Marro, Béatrice ; Alamowitch, Sonia ; Paques, Michel ; Ronco, Pierre</creator><creatorcontrib>Plaisier, Emmanuelle ; Chen, Zhiyong ; Gekeler, Florian ; Benhassine, Safa ; Dahan, Karine ; Marro, Béatrice ; Alamowitch, Sonia ; Paques, Michel ; Ronco, Pierre</creatorcontrib><description>The COL4A1 gene encodes the α1‐chain of type IV collagen, which is ubiquitously expressed in basement membranes. Mutations in COL4A1 have been reported in autosomal‐dominant porencephaly and in patients with symptomatic small vessel brain disease, inconstantly associated with eye defects. We have previously reported three COL4A1 mutations associated with a systemic phenotype that we called HANAC (Hereditary Angiopathy, Nephropathy, Aneurysms, and Cramps). We carried out a clinical and genetic study of three families presenting with characteristic features of HANAC syndrome. Common systemic signs included arterial retinal tortuosity and muscle cramps, with a variable combination of small vessel brain disease, Raynaud phenomena, and kidney defects. Three novel COL4A1 missense substitutions are described, which affect highly conserved glycine residues within the collagenous domain of the protein. All six known mutations associated with the HANAC phenotype are localized within the CB3[IV] fragment of COL4A1, which encompasses major integrin‐binding sites. Our results confirm that HANAC syndrome is a distinct clinical entity within the COL4A1‐related disorders, which is characterized by systemic involvement and usually asymptomatic brain disease. The restricted distribution of COL4A1 mutations within the CB3[IV] region is a characteristic of the reports of patients with HANAC, which suggests that abnormal cell‐type IV collagen interactions may underlie the systemic defects observed in this syndrome. © 2010 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 1552-4833</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.33659</identifier><identifier>PMID: 20818663</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Adult ; Amino Acid Sequence ; Animals ; basement membrane ; Biological and medical sciences ; Brain Diseases - genetics ; COL4A1 ; Collagen Type IV - chemistry ; Collagen Type IV - genetics ; Conserved Sequence ; Female ; Humans ; integrin ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Mutation ; Pedigree ; Raynaud Disease - genetics ; Sequence Alignment ; Sequence Homology, Amino Acid ; type IV collagen</subject><ispartof>American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2550-2555</ispartof><rights>Copyright © 2010 Wiley‐Liss, Inc.</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2010 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4349-2763ff21601c7a6228f4ef1de19c56d64efcb709d9530295412ce6aa9ac6caad3</citedby><cites>FETCH-LOGICAL-c4349-2763ff21601c7a6228f4ef1de19c56d64efcb709d9530295412ce6aa9ac6caad3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.33659$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.33659$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23273184$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20818663$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Plaisier, Emmanuelle</creatorcontrib><creatorcontrib>Chen, Zhiyong</creatorcontrib><creatorcontrib>Gekeler, Florian</creatorcontrib><creatorcontrib>Benhassine, Safa</creatorcontrib><creatorcontrib>Dahan, Karine</creatorcontrib><creatorcontrib>Marro, Béatrice</creatorcontrib><creatorcontrib>Alamowitch, Sonia</creatorcontrib><creatorcontrib>Paques, Michel</creatorcontrib><creatorcontrib>Ronco, Pierre</creatorcontrib><title>Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>The COL4A1 gene encodes the α1‐chain of type IV collagen, which is ubiquitously expressed in basement membranes. Mutations in COL4A1 have been reported in autosomal‐dominant porencephaly and in patients with symptomatic small vessel brain disease, inconstantly associated with eye defects. We have previously reported three COL4A1 mutations associated with a systemic phenotype that we called HANAC (Hereditary Angiopathy, Nephropathy, Aneurysms, and Cramps). We carried out a clinical and genetic study of three families presenting with characteristic features of HANAC syndrome. Common systemic signs included arterial retinal tortuosity and muscle cramps, with a variable combination of small vessel brain disease, Raynaud phenomena, and kidney defects. Three novel COL4A1 missense substitutions are described, which affect highly conserved glycine residues within the collagenous domain of the protein. All six known mutations associated with the HANAC phenotype are localized within the CB3[IV] fragment of COL4A1, which encompasses major integrin‐binding sites. Our results confirm that HANAC syndrome is a distinct clinical entity within the COL4A1‐related disorders, which is characterized by systemic involvement and usually asymptomatic brain disease. The restricted distribution of COL4A1 mutations within the CB3[IV] region is a characteristic of the reports of patients with HANAC, which suggests that abnormal cell‐type IV collagen interactions may underlie the systemic defects observed in this syndrome. © 2010 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Adult</subject><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>basement membrane</subject><subject>Biological and medical sciences</subject><subject>Brain Diseases - genetics</subject><subject>COL4A1</subject><subject>Collagen Type IV - chemistry</subject><subject>Collagen Type IV - genetics</subject><subject>Conserved Sequence</subject><subject>Female</subject><subject>Humans</subject><subject>integrin</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Raynaud Disease - genetics</subject><subject>Sequence Alignment</subject><subject>Sequence Homology, Amino Acid</subject><subject>type IV collagen</subject><issn>1552-4825</issn><issn>1552-4833</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1vEzEQhi0EoqVw44x8QVy6wR9re81tiUpaFFJUoBwQsqZeL3HZXQd7Q8m_xyVpuMFpZqTnfUd6EHpKyYQSwl7Cdf9tAhPOpdD30CEVghVlxfn9_c7EAXqU0jUhnAglH6IDRipaSckPkV2En67D0_N5WVPcr0cYfRgShpSC9TC6Bt_4cYlP60U9xWkzNDH07hWucQydw22IeFw6PEa_yufSdd5CrnvNv5xdfsVN6MEPj9GDFrrknuzmEfr05uTj9LSYn8_OpvW8sCUvdcGU5G3LqCTUKpCMVW3pWto4qq2QjcyHvVJEN1pwwrQoKbNOAmiw0gI0_Ai92PauYvixdmk0vU_WdR0MLqyTqZQulZQV_S-phOC6Ukpk8nhL2hhSiq41q-h7iBtDibn1b279GzB__Gf82a54fdW7Zg_fCc_A8x0AKZtqIwzWp78cZ4rTqswc33I3vnObfz419dt3s7v3xTbl0-h-7VMQvxupuBLm82Jm5vLi4v2l-pDTvwG0Rqu0</recordid><startdate>201010</startdate><enddate>201010</enddate><creator>Plaisier, Emmanuelle</creator><creator>Chen, Zhiyong</creator><creator>Gekeler, Florian</creator><creator>Benhassine, Safa</creator><creator>Dahan, Karine</creator><creator>Marro, Béatrice</creator><creator>Alamowitch, Sonia</creator><creator>Paques, Michel</creator><creator>Ronco, Pierre</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</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>7X8</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201010</creationdate><title>Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain</title><author>Plaisier, Emmanuelle ; Chen, Zhiyong ; Gekeler, Florian ; Benhassine, Safa ; Dahan, Karine ; Marro, Béatrice ; Alamowitch, Sonia ; Paques, Michel ; Ronco, Pierre</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4349-2763ff21601c7a6228f4ef1de19c56d64efcb709d9530295412ce6aa9ac6caad3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Adult</topic><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>basement membrane</topic><topic>Biological and medical sciences</topic><topic>Brain Diseases - genetics</topic><topic>COL4A1</topic><topic>Collagen Type IV - chemistry</topic><topic>Collagen Type IV - genetics</topic><topic>Conserved Sequence</topic><topic>Female</topic><topic>Humans</topic><topic>integrin</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Raynaud Disease - genetics</topic><topic>Sequence Alignment</topic><topic>Sequence Homology, Amino Acid</topic><topic>type IV collagen</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Plaisier, Emmanuelle</creatorcontrib><creatorcontrib>Chen, Zhiyong</creatorcontrib><creatorcontrib>Gekeler, Florian</creatorcontrib><creatorcontrib>Benhassine, Safa</creatorcontrib><creatorcontrib>Dahan, Karine</creatorcontrib><creatorcontrib>Marro, Béatrice</creatorcontrib><creatorcontrib>Alamowitch, Sonia</creatorcontrib><creatorcontrib>Paques, Michel</creatorcontrib><creatorcontrib>Ronco, Pierre</creatorcontrib><collection>Istex</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>MEDLINE - Academic</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Plaisier, Emmanuelle</au><au>Chen, Zhiyong</au><au>Gekeler, Florian</au><au>Benhassine, Safa</au><au>Dahan, Karine</au><au>Marro, Béatrice</au><au>Alamowitch, Sonia</au><au>Paques, Michel</au><au>Ronco, Pierre</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2010-10</date><risdate>2010</risdate><volume>152A</volume><issue>10</issue><spage>2550</spage><epage>2555</epage><pages>2550-2555</pages><issn>1552-4825</issn><issn>1552-4833</issn><eissn>1552-4833</eissn><abstract>The COL4A1 gene encodes the α1‐chain of type IV collagen, which is ubiquitously expressed in basement membranes. Mutations in COL4A1 have been reported in autosomal‐dominant porencephaly and in patients with symptomatic small vessel brain disease, inconstantly associated with eye defects. We have previously reported three COL4A1 mutations associated with a systemic phenotype that we called HANAC (Hereditary Angiopathy, Nephropathy, Aneurysms, and Cramps). We carried out a clinical and genetic study of three families presenting with characteristic features of HANAC syndrome. Common systemic signs included arterial retinal tortuosity and muscle cramps, with a variable combination of small vessel brain disease, Raynaud phenomena, and kidney defects. Three novel COL4A1 missense substitutions are described, which affect highly conserved glycine residues within the collagenous domain of the protein. All six known mutations associated with the HANAC phenotype are localized within the CB3[IV] fragment of COL4A1, which encompasses major integrin‐binding sites. Our results confirm that HANAC syndrome is a distinct clinical entity within the COL4A1‐related disorders, which is characterized by systemic involvement and usually asymptomatic brain disease. The restricted distribution of COL4A1 mutations within the CB3[IV] region is a characteristic of the reports of patients with HANAC, which suggests that abnormal cell‐type IV collagen interactions may underlie the systemic defects observed in this syndrome. © 2010 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>20818663</pmid><doi>10.1002/ajmg.a.33659</doi><tpages>6</tpages></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1552-4825 |
ispartof | American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2550-2555 |
issn | 1552-4825 1552-4833 1552-4833 |
language | eng |
recordid | cdi_proquest_miscellaneous_879476681 |
source | MEDLINE; Access via Wiley Online Library |
subjects | Abnormalities, Multiple - genetics Adult Amino Acid Sequence Animals basement membrane Biological and medical sciences Brain Diseases - genetics COL4A1 Collagen Type IV - chemistry Collagen Type IV - genetics Conserved Sequence Female Humans integrin Male Medical genetics Medical sciences Middle Aged Mutation Pedigree Raynaud Disease - genetics Sequence Alignment Sequence Homology, Amino Acid type IV collagen |
title | Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-25T20%3A50%3A25IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Novel%20COL4A1%20mutations%20associated%20with%20HANAC%20syndrome:%20A%20role%20for%20the%20triple%20helical%20CB3%5BIV%5D%20domain&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Plaisier,%20Emmanuelle&rft.date=2010-10&rft.volume=152A&rft.issue=10&rft.spage=2550&rft.epage=2555&rft.pages=2550-2555&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.33659&rft_dat=%3Cproquest_cross%3E755398775%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=755398775&rft_id=info:pmid/20818663&rfr_iscdi=true |