Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes
Background: Pediatric cataract is an important preventable blinding disease. Previous studies have estimated 10–25% of cases to be genetic in etiology. Methods: In an effort to characterize the genetics of cataract in our population, we have conducted a comprehensive clinical and genomic analysis (i...
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| Veröffentlicht in: | Genetics in medicine 2012-12, Vol.14 (12), p.955-962 |
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| creator | Aldahmesh, Mohammed A Khan, Arif O Mohamed, Jawahir Y Hijazi, Hadia Al-Owain, Mohammed Alswaid, Abdulrahman Alkuraya, Fowzan S |
| description | Background:
Pediatric cataract is an important preventable blinding disease. Previous studies have estimated 10–25% of cases to be genetic in etiology.
Methods:
In an effort to characterize the genetics of cataract in our population, we have conducted a comprehensive clinical and genomic analysis (including autozygome and exome analysis) on a series of 38 index patients.
Results:
Pediatric cataract is genetic in at least 79% of the study families. Although crystallins accounted for most of the mutant alleles, mutations in other genes were encountered, including recessive mutations in genes that usually cause the disease in a dominant manner. In addition, several novel candidate genes (MFSD6L, AKR1E2, RNLS, and CYP51A1) were identified.
Conclusion:
Pediatric cataract is typically a genetic disease, usually autosomal recessive, in Saudi Arabia. Although defining a specific cataract phenotype can sometimes predict the genetic cause, genomic analysis is often required to unravel the causative mutation given the marked genetic heterogeneity. The identified novel candidate genes require independent confirmation in future studies.
Genet Med
2012:14(12):955–962 |
| doi_str_mv | 10.1038/gim.2012.86 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1291611602</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1237514622</sourcerecordid><originalsourceid>FETCH-LOGICAL-c490t-f26aec8e8052afa9747fd76be3722de61bad5e31a4b705cc601bc86a34ea2c7b3</originalsourceid><addsrcrecordid>eNqN0U1rFTEUBuAgFvuhK_cScCPoXHOSmSSzLEVrodBFdSeEM8mZS8p8XJOZQv99c7m1grhwlZA8vAfOy9hbEBsQyn7exnEjBciN1S_YCTRKVEJp_bLcRWsrpYU4Zqc53wkBRknxih1L2arGQHvCfl7SNI_Rc5xweMgx87nnOwoRl1RePS6Y0C88TvwW1xD5ecIuIk90TzhkPs33NBQ2hRhwIR5iJszEtzRRfs2O-oLozdN5xn58_fL94lt1fXN5dXF-Xfm6FUvVS43kLVnRSOyxNbXpg9EdKSNlIA0dhoYUYN0Z0XivBXTealQ1ofSmU2fswyF3l-ZfK-XFjTF7GgacaF6zA9mCBtBC_gdVpoFayz19_xe9m9dU1pSdtNYYAKt1UR8Pyqc550S926U4YnpwINy-H1f6cft-nN3rd0-ZazdSeLa_Cyng0wHk8jVtKf0Z-q-8R-gymYY</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2887711866</pqid></control><display><type>article</type><title>Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>ProQuest Central UK/Ireland</source><source>Alma/SFX Local Collection</source><creator>Aldahmesh, Mohammed A ; Khan, Arif O ; Mohamed, Jawahir Y ; Hijazi, Hadia ; Al-Owain, Mohammed ; Alswaid, Abdulrahman ; Alkuraya, Fowzan S</creator><creatorcontrib>Aldahmesh, Mohammed A ; Khan, Arif O ; Mohamed, Jawahir Y ; Hijazi, Hadia ; Al-Owain, Mohammed ; Alswaid, Abdulrahman ; Alkuraya, Fowzan S</creatorcontrib><description>Background:
Pediatric cataract is an important preventable blinding disease. Previous studies have estimated 10–25% of cases to be genetic in etiology.
Methods:
In an effort to characterize the genetics of cataract in our population, we have conducted a comprehensive clinical and genomic analysis (including autozygome and exome analysis) on a series of 38 index patients.
Results:
Pediatric cataract is genetic in at least 79% of the study families. Although crystallins accounted for most of the mutant alleles, mutations in other genes were encountered, including recessive mutations in genes that usually cause the disease in a dominant manner. In addition, several novel candidate genes (MFSD6L, AKR1E2, RNLS, and CYP51A1) were identified.
Conclusion:
Pediatric cataract is typically a genetic disease, usually autosomal recessive, in Saudi Arabia. Although defining a specific cataract phenotype can sometimes predict the genetic cause, genomic analysis is often required to unravel the causative mutation given the marked genetic heterogeneity. The identified novel candidate genes require independent confirmation in future studies.
Genet Med
2012:14(12):955–962</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/gim.2012.86</identifier><identifier>PMID: 22935719</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>631/208/205 ; 631/208/212 ; 631/208/2489/144 ; 631/208/737 ; beta-Crystallin B Chain - genetics ; Biomedical and Life Sciences ; Biomedicine ; Cataract - genetics ; Cataracts ; Child ; Crystallin ; DNA Mutational Analysis ; DNA-Binding Proteins - genetics ; Etiology ; Exome ; Eye Proteins - genetics ; Female ; Founder Effect ; Genetic Association Studies ; Genome, Human ; Genomic analysis ; Homozygote ; Human Genetics ; Humans ; Intermediate Filament Proteins - genetics ; Laboratory Medicine ; Male ; Microtubule-Associated Proteins ; Monoamine Oxidase - genetics ; Mutation ; Mutation, Missense ; N-Acetylglucosaminyltransferases - genetics ; original-research-article ; Pediatrics ; Receptor, EphA2 - genetics ; Saudi Arabia ; Sterol 14-Demethylase - genetics ; Transcription Factors - genetics</subject><ispartof>Genetics in medicine, 2012-12, Vol.14 (12), p.955-962</ispartof><rights>American College of Medical Genetics and Genomics 2012</rights><rights>American College of Medical Genetics and Genomics 2012.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c490t-f26aec8e8052afa9747fd76be3722de61bad5e31a4b705cc601bc86a34ea2c7b3</citedby><cites>FETCH-LOGICAL-c490t-f26aec8e8052afa9747fd76be3722de61bad5e31a4b705cc601bc86a34ea2c7b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2887711866?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22935719$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Aldahmesh, Mohammed A</creatorcontrib><creatorcontrib>Khan, Arif O</creatorcontrib><creatorcontrib>Mohamed, Jawahir Y</creatorcontrib><creatorcontrib>Hijazi, Hadia</creatorcontrib><creatorcontrib>Al-Owain, Mohammed</creatorcontrib><creatorcontrib>Alswaid, Abdulrahman</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S</creatorcontrib><title>Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>Background:
Pediatric cataract is an important preventable blinding disease. Previous studies have estimated 10–25% of cases to be genetic in etiology.
Methods:
In an effort to characterize the genetics of cataract in our population, we have conducted a comprehensive clinical and genomic analysis (including autozygome and exome analysis) on a series of 38 index patients.
Results:
Pediatric cataract is genetic in at least 79% of the study families. Although crystallins accounted for most of the mutant alleles, mutations in other genes were encountered, including recessive mutations in genes that usually cause the disease in a dominant manner. In addition, several novel candidate genes (MFSD6L, AKR1E2, RNLS, and CYP51A1) were identified.
Conclusion:
Pediatric cataract is typically a genetic disease, usually autosomal recessive, in Saudi Arabia. Although defining a specific cataract phenotype can sometimes predict the genetic cause, genomic analysis is often required to unravel the causative mutation given the marked genetic heterogeneity. The identified novel candidate genes require independent confirmation in future studies.
Genet Med
2012:14(12):955–962</description><subject>631/208/205</subject><subject>631/208/212</subject><subject>631/208/2489/144</subject><subject>631/208/737</subject><subject>beta-Crystallin B Chain - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cataract - genetics</subject><subject>Cataracts</subject><subject>Child</subject><subject>Crystallin</subject><subject>DNA Mutational Analysis</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Etiology</subject><subject>Exome</subject><subject>Eye Proteins - genetics</subject><subject>Female</subject><subject>Founder Effect</subject><subject>Genetic Association Studies</subject><subject>Genome, Human</subject><subject>Genomic analysis</subject><subject>Homozygote</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Intermediate Filament Proteins - genetics</subject><subject>Laboratory Medicine</subject><subject>Male</subject><subject>Microtubule-Associated Proteins</subject><subject>Monoamine Oxidase - genetics</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>N-Acetylglucosaminyltransferases - genetics</subject><subject>original-research-article</subject><subject>Pediatrics</subject><subject>Receptor, EphA2 - genetics</subject><subject>Saudi Arabia</subject><subject>Sterol 14-Demethylase - genetics</subject><subject>Transcription Factors - genetics</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqN0U1rFTEUBuAgFvuhK_cScCPoXHOSmSSzLEVrodBFdSeEM8mZS8p8XJOZQv99c7m1grhwlZA8vAfOy9hbEBsQyn7exnEjBciN1S_YCTRKVEJp_bLcRWsrpYU4Zqc53wkBRknxih1L2arGQHvCfl7SNI_Rc5xweMgx87nnOwoRl1RePS6Y0C88TvwW1xD5ecIuIk90TzhkPs33NBQ2hRhwIR5iJszEtzRRfs2O-oLozdN5xn58_fL94lt1fXN5dXF-Xfm6FUvVS43kLVnRSOyxNbXpg9EdKSNlIA0dhoYUYN0Z0XivBXTealQ1ofSmU2fswyF3l-ZfK-XFjTF7GgacaF6zA9mCBtBC_gdVpoFayz19_xe9m9dU1pSdtNYYAKt1UR8Pyqc550S926U4YnpwINy-H1f6cft-nN3rd0-ZazdSeLa_Cyng0wHk8jVtKf0Z-q-8R-gymYY</recordid><startdate>20121201</startdate><enddate>20121201</enddate><creator>Aldahmesh, Mohammed A</creator><creator>Khan, Arif O</creator><creator>Mohamed, Jawahir Y</creator><creator>Hijazi, Hadia</creator><creator>Al-Owain, Mohammed</creator><creator>Alswaid, Abdulrahman</creator><creator>Alkuraya, Fowzan S</creator><general>Nature Publishing Group US</general><general>Elsevier Limited</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20121201</creationdate><title>Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes</title><author>Aldahmesh, Mohammed A ; Khan, Arif O ; Mohamed, Jawahir Y ; Hijazi, Hadia ; Al-Owain, Mohammed ; Alswaid, Abdulrahman ; Alkuraya, Fowzan S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c490t-f26aec8e8052afa9747fd76be3722de61bad5e31a4b705cc601bc86a34ea2c7b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>631/208/205</topic><topic>631/208/212</topic><topic>631/208/2489/144</topic><topic>631/208/737</topic><topic>beta-Crystallin B Chain - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cataract - genetics</topic><topic>Cataracts</topic><topic>Child</topic><topic>Crystallin</topic><topic>DNA Mutational Analysis</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Etiology</topic><topic>Exome</topic><topic>Eye Proteins - genetics</topic><topic>Female</topic><topic>Founder Effect</topic><topic>Genetic Association Studies</topic><topic>Genome, Human</topic><topic>Genomic analysis</topic><topic>Homozygote</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Intermediate Filament Proteins - genetics</topic><topic>Laboratory Medicine</topic><topic>Male</topic><topic>Microtubule-Associated Proteins</topic><topic>Monoamine Oxidase - genetics</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>N-Acetylglucosaminyltransferases - genetics</topic><topic>original-research-article</topic><topic>Pediatrics</topic><topic>Receptor, EphA2 - genetics</topic><topic>Saudi Arabia</topic><topic>Sterol 14-Demethylase - genetics</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Aldahmesh, Mohammed A</creatorcontrib><creatorcontrib>Khan, Arif O</creatorcontrib><creatorcontrib>Mohamed, Jawahir Y</creatorcontrib><creatorcontrib>Hijazi, Hadia</creatorcontrib><creatorcontrib>Al-Owain, Mohammed</creatorcontrib><creatorcontrib>Alswaid, Abdulrahman</creatorcontrib><creatorcontrib>Alkuraya, Fowzan S</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</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 Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical 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>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Aldahmesh, Mohammed A</au><au>Khan, Arif O</au><au>Mohamed, Jawahir Y</au><au>Hijazi, Hadia</au><au>Al-Owain, Mohammed</au><au>Alswaid, Abdulrahman</au><au>Alkuraya, Fowzan S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2012-12-01</date><risdate>2012</risdate><volume>14</volume><issue>12</issue><spage>955</spage><epage>962</epage><pages>955-962</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Background:
Pediatric cataract is an important preventable blinding disease. Previous studies have estimated 10–25% of cases to be genetic in etiology.
Methods:
In an effort to characterize the genetics of cataract in our population, we have conducted a comprehensive clinical and genomic analysis (including autozygome and exome analysis) on a series of 38 index patients.
Results:
Pediatric cataract is genetic in at least 79% of the study families. Although crystallins accounted for most of the mutant alleles, mutations in other genes were encountered, including recessive mutations in genes that usually cause the disease in a dominant manner. In addition, several novel candidate genes (MFSD6L, AKR1E2, RNLS, and CYP51A1) were identified.
Conclusion:
Pediatric cataract is typically a genetic disease, usually autosomal recessive, in Saudi Arabia. Although defining a specific cataract phenotype can sometimes predict the genetic cause, genomic analysis is often required to unravel the causative mutation given the marked genetic heterogeneity. The identified novel candidate genes require independent confirmation in future studies.
Genet Med
2012:14(12):955–962</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>22935719</pmid><doi>10.1038/gim.2012.86</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| subjects | 631/208/205 631/208/212 631/208/2489/144 631/208/737 beta-Crystallin B Chain - genetics Biomedical and Life Sciences Biomedicine Cataract - genetics Cataracts Child Crystallin DNA Mutational Analysis DNA-Binding Proteins - genetics Etiology Exome Eye Proteins - genetics Female Founder Effect Genetic Association Studies Genome, Human Genomic analysis Homozygote Human Genetics Humans Intermediate Filament Proteins - genetics Laboratory Medicine Male Microtubule-Associated Proteins Monoamine Oxidase - genetics Mutation Mutation, Missense N-Acetylglucosaminyltransferases - genetics original-research-article Pediatrics Receptor, EphA2 - genetics Saudi Arabia Sterol 14-Demethylase - genetics Transcription Factors - genetics |
| title | Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes |
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