Loading…
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome
Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a cons...
Saved in:
| Published in: | American journal of human genetics 2011-01, Vol.88 (1), p.92-98 |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c609t-648dd3c9881174f77814226bc8d2cae6e4c2407bfebe0aa1df1e3ee2633d33e13 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c609t-648dd3c9881174f77814226bc8d2cae6e4c2407bfebe0aa1df1e3ee2633d33e13 |
| container_end_page | 98 |
| container_issue | 1 |
| container_start_page | 92 |
| container_title | American journal of human genetics |
| container_volume | 88 |
| creator | Abouzeid, Hana Boisset, Gaëlle Favez, Tatiana Youssef, Mohamed Marzouk, Iman Shakankiry, Nihal Bayoumi, Nader Descombes, Patrick Agosti, Céline Munier, Francis L. Schorderet, Daniel F. |
| description | Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites. |
| doi_str_mv | 10.1016/j.ajhg.2010.12.002 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3014360</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0002929710006385</els_id><sourcerecordid>954616520</sourcerecordid><originalsourceid>FETCH-LOGICAL-c609t-648dd3c9881174f77814226bc8d2cae6e4c2407bfebe0aa1df1e3ee2633d33e13</originalsourceid><addsrcrecordid>eNqFkV2LEzEUhgdR3O7qH_BCgiDe7NR8TSYDItSiq7Bll63iZUiTM23KTFKTmYX995vSun5c6FXg5HlfTvIUxQuCpwQT8XY71dvNekrxfkCnGNNHxYRUrC6FwNXjYoLzqGxoU58UpyltMSZEYva0OKGENFxIPCnGxTjowQWfkPNo2ABaXs9u5uUNdHoAixbBjp2OaK4748a-_OC8dX6NrmMYICcIugAP52i5uJqT84yNCdB3raMFvxrjGs182G2Gje56p9HyztsYenhWPGl1l-D58Twrvn36-HX-uby8uvgyn12WRuBmKAWX1jLTSElIzdu6loRTKlZGWmo0COCGclyvWlgB1prYlgADoIIxyxgQdla8P_TuxlUP1oAfou7ULrpexzsVtFN_3ni3UetwqxgmnAmcC94cC2L4MUIaVO-Sga7THsKYVFNxQURF_09KShvMOGaZfPUXuQ1j9PkflOSV4Aw3MkP0AJkYUorQPixNsNrbV1u1t6_29hWhKqvOoZe_P_ch8lN3Bl4fAZ2M7tqovXHpF8dqyYisMvfuwEGWc-sgqmQceAPWRTCDssH9a497ZcbM1Q</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>845643098</pqid></control><display><type>article</type><title>Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome</title><source>BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS</source><source>PubMed Central</source><creator>Abouzeid, Hana ; Boisset, Gaëlle ; Favez, Tatiana ; Youssef, Mohamed ; Marzouk, Iman ; Shakankiry, Nihal ; Bayoumi, Nader ; Descombes, Patrick ; Agosti, Céline ; Munier, Francis L. ; Schorderet, Daniel F.</creator><creatorcontrib>Abouzeid, Hana ; Boisset, Gaëlle ; Favez, Tatiana ; Youssef, Mohamed ; Marzouk, Iman ; Shakankiry, Nihal ; Bayoumi, Nader ; Descombes, Patrick ; Agosti, Céline ; Munier, Francis L. ; Schorderet, Daniel F.</creatorcontrib><description>Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1016/j.ajhg.2010.12.002</identifier><identifier>PMID: 21194680</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Cambridge, MA: Elsevier Inc</publisher><subject>Adult ; Base Sequence ; Binding sites ; Biological and medical sciences ; Child ; Consanguinity ; Danio rerio ; Developmental disabilities ; Eye - growth & development ; Female ; Fingers - diagnostic imaging ; Fingers - growth & development ; Fundamental and applied biological sciences. Psychology ; Gene expression ; General aspects. Genetic counseling ; Genes, Recessive ; Genetics of eukaryotes. Biological and molecular evolution ; Genomics ; Humans ; Male ; Malformations of the eye ; Medical genetics ; Medical sciences ; Molecular and cellular biology ; Molecular Sequence Data ; Mutation ; Ophthalmology ; Osteonectin - genetics ; Pedigree ; Proteins ; Radiography ; Waardenburg Syndrome - genetics</subject><ispartof>American journal of human genetics, 2011-01, Vol.88 (1), p.92-98</ispartof><rights>2011 The American Society of Human Genetics</rights><rights>2015 INIST-CNRS</rights><rights>Copyright Cell Press Jan 7, 2011</rights><rights>2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c609t-648dd3c9881174f77814226bc8d2cae6e4c2407bfebe0aa1df1e3ee2633d33e13</citedby><cites>FETCH-LOGICAL-c609t-648dd3c9881174f77814226bc8d2cae6e4c2407bfebe0aa1df1e3ee2633d33e13</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/PMC3014360/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014360/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23783185$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21194680$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Abouzeid, Hana</creatorcontrib><creatorcontrib>Boisset, Gaëlle</creatorcontrib><creatorcontrib>Favez, Tatiana</creatorcontrib><creatorcontrib>Youssef, Mohamed</creatorcontrib><creatorcontrib>Marzouk, Iman</creatorcontrib><creatorcontrib>Shakankiry, Nihal</creatorcontrib><creatorcontrib>Bayoumi, Nader</creatorcontrib><creatorcontrib>Descombes, Patrick</creatorcontrib><creatorcontrib>Agosti, Céline</creatorcontrib><creatorcontrib>Munier, Francis L.</creatorcontrib><creatorcontrib>Schorderet, Daniel F.</creatorcontrib><title>Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.</description><subject>Adult</subject><subject>Base Sequence</subject><subject>Binding sites</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Consanguinity</subject><subject>Danio rerio</subject><subject>Developmental disabilities</subject><subject>Eye - growth & development</subject><subject>Female</subject><subject>Fingers - diagnostic imaging</subject><subject>Fingers - growth & development</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene expression</subject><subject>General aspects. Genetic counseling</subject><subject>Genes, Recessive</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genomics</subject><subject>Humans</subject><subject>Male</subject><subject>Malformations of the eye</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Molecular and cellular biology</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Osteonectin - genetics</subject><subject>Pedigree</subject><subject>Proteins</subject><subject>Radiography</subject><subject>Waardenburg Syndrome - genetics</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><recordid>eNqFkV2LEzEUhgdR3O7qH_BCgiDe7NR8TSYDItSiq7Bll63iZUiTM23KTFKTmYX995vSun5c6FXg5HlfTvIUxQuCpwQT8XY71dvNekrxfkCnGNNHxYRUrC6FwNXjYoLzqGxoU58UpyltMSZEYva0OKGENFxIPCnGxTjowQWfkPNo2ABaXs9u5uUNdHoAixbBjp2OaK4748a-_OC8dX6NrmMYICcIugAP52i5uJqT84yNCdB3raMFvxrjGs182G2Gje56p9HyztsYenhWPGl1l-D58Twrvn36-HX-uby8uvgyn12WRuBmKAWX1jLTSElIzdu6loRTKlZGWmo0COCGclyvWlgB1prYlgADoIIxyxgQdla8P_TuxlUP1oAfou7ULrpexzsVtFN_3ni3UetwqxgmnAmcC94cC2L4MUIaVO-Sga7THsKYVFNxQURF_09KShvMOGaZfPUXuQ1j9PkflOSV4Aw3MkP0AJkYUorQPixNsNrbV1u1t6_29hWhKqvOoZe_P_ch8lN3Bl4fAZ2M7tqovXHpF8dqyYisMvfuwEGWc-sgqmQceAPWRTCDssH9a497ZcbM1Q</recordid><startdate>20110107</startdate><enddate>20110107</enddate><creator>Abouzeid, Hana</creator><creator>Boisset, Gaëlle</creator><creator>Favez, Tatiana</creator><creator>Youssef, Mohamed</creator><creator>Marzouk, Iman</creator><creator>Shakankiry, Nihal</creator><creator>Bayoumi, Nader</creator><creator>Descombes, Patrick</creator><creator>Agosti, Céline</creator><creator>Munier, Francis L.</creator><creator>Schorderet, Daniel F.</creator><general>Elsevier Inc</general><general>Cell Press</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</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>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20110107</creationdate><title>Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome</title><author>Abouzeid, Hana ; Boisset, Gaëlle ; Favez, Tatiana ; Youssef, Mohamed ; Marzouk, Iman ; Shakankiry, Nihal ; Bayoumi, Nader ; Descombes, Patrick ; Agosti, Céline ; Munier, Francis L. ; Schorderet, Daniel F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c609t-648dd3c9881174f77814226bc8d2cae6e4c2407bfebe0aa1df1e3ee2633d33e13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adult</topic><topic>Base Sequence</topic><topic>Binding sites</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Consanguinity</topic><topic>Danio rerio</topic><topic>Developmental disabilities</topic><topic>Eye - growth & development</topic><topic>Female</topic><topic>Fingers - diagnostic imaging</topic><topic>Fingers - growth & development</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene expression</topic><topic>General aspects. Genetic counseling</topic><topic>Genes, Recessive</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genomics</topic><topic>Humans</topic><topic>Male</topic><topic>Malformations of the eye</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular and cellular biology</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Osteonectin - genetics</topic><topic>Pedigree</topic><topic>Proteins</topic><topic>Radiography</topic><topic>Waardenburg Syndrome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Abouzeid, Hana</creatorcontrib><creatorcontrib>Boisset, Gaëlle</creatorcontrib><creatorcontrib>Favez, Tatiana</creatorcontrib><creatorcontrib>Youssef, Mohamed</creatorcontrib><creatorcontrib>Marzouk, Iman</creatorcontrib><creatorcontrib>Shakankiry, Nihal</creatorcontrib><creatorcontrib>Bayoumi, Nader</creatorcontrib><creatorcontrib>Descombes, Patrick</creatorcontrib><creatorcontrib>Agosti, Céline</creatorcontrib><creatorcontrib>Munier, Francis L.</creatorcontrib><creatorcontrib>Schorderet, Daniel F.</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>MEDLINE - Academic</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>Abouzeid, Hana</au><au>Boisset, Gaëlle</au><au>Favez, Tatiana</au><au>Youssef, Mohamed</au><au>Marzouk, Iman</au><au>Shakankiry, Nihal</au><au>Bayoumi, Nader</au><au>Descombes, Patrick</au><au>Agosti, Céline</au><au>Munier, Francis L.</au><au>Schorderet, Daniel F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2011-01-07</date><risdate>2011</risdate><volume>88</volume><issue>1</issue><spage>92</spage><epage>98</epage><pages>92-98</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.</abstract><cop>Cambridge, MA</cop><pub>Elsevier Inc</pub><pmid>21194680</pmid><doi>10.1016/j.ajhg.2010.12.002</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 2011-01, Vol.88 (1), p.92-98 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3014360 |
| source | BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS; PubMed Central |
| subjects | Adult Base Sequence Binding sites Biological and medical sciences Child Consanguinity Danio rerio Developmental disabilities Eye - growth & development Female Fingers - diagnostic imaging Fingers - growth & development Fundamental and applied biological sciences. Psychology Gene expression General aspects. Genetic counseling Genes, Recessive Genetics of eukaryotes. Biological and molecular evolution Genomics Humans Male Malformations of the eye Medical genetics Medical sciences Molecular and cellular biology Molecular Sequence Data Mutation Ophthalmology Osteonectin - genetics Pedigree Proteins Radiography Waardenburg Syndrome - genetics |
| title | Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T17%3A54%3A28IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutations%20in%20the%20SPARC-Related%20Modular%20Calcium-Binding%20Protein%201%20Gene,%20SMOC1,%20Cause%20Waardenburg%20Anophthalmia%20Syndrome&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=Abouzeid,%20Hana&rft.date=2011-01-07&rft.volume=88&rft.issue=1&rft.spage=92&rft.epage=98&rft.pages=92-98&rft.issn=0002-9297&rft.eissn=1537-6605&rft.coden=AJHGAG&rft_id=info:doi/10.1016/j.ajhg.2010.12.002&rft_dat=%3Cproquest_pubme%3E954616520%3C/proquest_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c609t-648dd3c9881174f77814226bc8d2cae6e4c2407bfebe0aa1df1e3ee2633d33e13%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=845643098&rft_id=info:pmid/21194680&rfr_iscdi=true |